Review of Noncompaction cardiomyopathy in children – an underestimated Incidence
Main Article Content
Abstract
Noncompaction cardiomyopathy (NCCM) is a heterogenous disorder and third most common cardiomyopathy in children. It is characterized by hyper trabeculation, commonly hypothesized due to an arrest in compaction during fetal development. Since 1984 its first description by Gerecke et al. NCCM has been labeled with several names over 35 years that includes—spongy myocardium, left ventricular noncompaction cardiomyopathy (LVNC), Left ventricular hyper trabeculation (LVHT). In the year 2006, the American Heart Association classified NCCM as a distinct form of cardiomyopathy (CMP). NCCM is a rare cardiac disease with an estimated incidence of 0.12 per 100.000 in children up to the age of 10. In children NCCM is more frequently familial than when diagnosed in adulthood and is associated with other congenital heart diseases (CHDs), other genetic CMPs, and neuromuscular diseases (NMDs). Diagnostic challenges made it underestimated incidence. It may be due to non-uniform diagnostic criteria, unawareness, presumed other CMPs, and presence of CHD. NCCM can be asymptomatic to various presentation like heart failure, arrhythmia thromboembolic events, either as individual or in combination. Specific Treatment strategy has not yet established, nevertheless and, betablocker, ACEI or ARB might lead to remodeling of Left ventricular function (LV). In addition to state-of-the-art review, we discuss the epidemiology, pathogenesis, Phenotypes, aetiology, genetics, clinical presentation, outcome, and advancement in therapeutic options of NCCM in pediatric patients- fetuses to children. Furthermore, we provide a simple classification of different forms of disease. Finally long-term outcomes and future perspective are described.
Keywords:
NCCM, Heterogenous cardiomyopathy in children
Article Details
How to Cite
KARIM, Tahmina; ISLAM, Md. Tariqul; KANTI, Nuzhat Tabassum.
Review of Noncompaction cardiomyopathy in children – an underestimated Incidence.
Medical Research Archives, [S.l.], v. 12, n. 7, july 2024.
ISSN 2375-1924.
Available at: <https://esmed.org/MRA/mra/article/view/5542>. Date accessed: 15 nov. 2024.
doi: https://doi.org/10.18103/mra.v12i7.5542.
Section
Review Articles
The Medical Research Archives grants authors the right to publish and reproduce the unrevised contribution in whole or in part at any time and in any form for any scholarly non-commercial purpose with the condition that all publications of the contribution include a full citation to the journal as published by the Medical Research Archives.
References
1. Freedom RM, Yoo SJ, Perrin D, Taylor G, Petersen S, Anderson RH. The morphological spectrum of ventricular noncompaction. Cardiol Young. 2005;15(4):345–64.
2. Lipshultz SE, Cochran TR, Briston DA, et al. Pediatric cardiomyopathies: causes, epidemiology, clinical course, preventive strategies and therapies. Futur Cardiol. 2013;9(6):817–48.
3. Jenni R, Oechslin EN, van der Loo B. Isolated ventricular non-compaction of the myocardium in adults. Heart. 2007;93(1):11–5.
4. Stöllberger C, Winkler-Dworak M, Blazek G, Finsterer J. Prognosis of left ventricular hypertrabeculation/noncompaction is dependent on cardiac and neuromuscular comorbidity. Int J Cardiol. 2007;121(2):189–93.
5. Stöllberger C, Finsterer J. Survival in young patients with noncompaction may not only depend on cardiac but also on neuromuscular comorbidity. Circ J. 2017;81(8):1238.
6. Finsterer J, Stollberger C (1998) Hypertrabeculated left ventricle in mitochondriopathy. Heart (British Cardiac Society) 80(6):632
7. Jenni R, Oechslin E, Schneider J, Attenhofer Jost C, Kaufmann PA (2001) Echocardiographic and pathoanatomical characteristics of isolated left ventricular non-compaction: a step towards classification as a distinct cardiomyopathy. Heart 86(6):666–71
8. Miller EM, Hinton RB, Czosek R, Lorts A, Parrott A, Shikany AR et al (2017) Genetic testing in pediatric left ventricular noncompaction. Circ Cardiovasc Genet 10(6)
9. Wang C, Takasaki A, Watanabe Ozawa S, Nakaoka H, Okabe M, Miyao N et al (2017) Long-term prognosis of patients with left ventricular noncompaction- comparison between infantile and juvenile types. Circ J 81(5):694–700
10. Freedom RM, Yoo SJ, Perrin D, Taylor G, Petersen S, Anderson RH (2005) The morphological spectrum of ventricular noncompaction. Cardiol Young 15(4):345–64
11. Jenni R, Goebel N, Tartini R, Schneider J, Arbenz U, Oelz O (1986) Persisting myocardial sinusoids of both ventricles as an isolated anomaly: echocardiographic, angiographic, and pathologic anatomical findings. Cardiovasc Intervent Radiol 9(3):127–31
12. van Waning JI, Caliskan K, Hoedemaekers YM, van SpaendonckZwarts KY, Baas AF, Boekholdt SM et al (2018) Genetics, clinical features, and long-term outcome of noncompaction cardiomyopathy. J Am Coll Cardiol 71(7):711–22
13. Hoedemaekers YM, Cohen-Overbeek TE, Frohn-Mulder IM, Dooijes D, Majoor-Krakauer DF (2013) Prenatal ultrasound diagnosis of MYH7 non-compaction cardiomyopathy. Ultrasound Obstet Gynecol: the Official J Int Soc Ultrasound Obstet and Gynecol 41(3):336–9
14. Stollberger C, Wegner C, Benatar A, Chin TK, Dangel J, MajoorKrakauer D et al (2016) Postnatal outcome of fetal left ventricular hypertrabeculation /noncompaction. Pediatr Cardiol 37(5):919–24
15. Shi WY, Moreno-Betancur M, Nugent AW, Cheung M, Colan S, Turner C, et al. Long-term outcomes of childhood left ventricular noncompaction cardiomyopathy: results from a national population-based study. Circulation. (2018) 138(4):367–76. doi: 10.1161/CIRCULATION AHA.117.032262
16. Schultze-Berndt A, Kühnisch J, Herbst C, Seidel F, Al-Wakeel-Marquard N, Dartsch J, et al. Reduced systolic function and not genetic variants determine outcome in pediatric and adult left ventricular noncompaction cardiomyopathy.
17. Vaidya VR, Lyle M, Miranda WR, Farwati M, Isath A, Patlolla SH, et al. Long- term survival of patients with left ventricular noncompaction. J Am Heart Assoc. (2021) 10(2):e015563. doi: 10.1161/ JAHA.1 19.015563
18. Jefferies JL, Wilkinson JD, Sleeper LA, Colan SD, Lu M, Pahl E, et al. Cardiomyopathy phenotypes and outcomes for children with left ventricular myocardial noncompaction: results from the pediatric cardiomyopathy registry. J Card Fail. (2015) 21(11):877–84. doi: 10.1016/j.car dfail.2015.06.381
19. Jenni R, Oechslin E, Schneider J, Attenhofer Jost C, Kaufmann PA. Echocardiographic and pathoanatomical characteristics of isolated left ventricular non-compaction: a step towards classification as a distinct cardiomyopathy. Heart. (2001) 86(6):666–71. doi: 10.1136/heart.86.6.666
20. Chin TK, Perloff JK, Williams RG, Jue K, Mohrmann R. Isolated noncompaction of left ventricular myocardium. A study of eight cases. Circulation. (1990) 82 (2):507–13. doi: 10.1161/01. cir.82.2.507
21. Stollberger C, Finsterer J, Blazek G. Left ventricular hypertrabeculation/ noncompaction and association with additional cardiac abnormalities and neuromuscular disorders. Am J Cardiol. (2002) 90(8):899–902. doi: 10.1016/s0002- 9149(02)02723-6
22. Petersen SE, Jensen B, Aung N, Friedrich MG, McMahon CJ, Mohiddin SA, et al. Excessive trabeculation of the left ventricle: JACC: cardiovascular imaging expert panel paper. JACC Cardiovasc Imaging. (2023) 16(3):408–25. doi: 10.1016/j.jcmg. 2022.12. 026
23. Gerecke BJ, Engberding R. Noncompaction cardiomyopathy-history and current knowledge for clinical practice. J Clin Med. (2021) 10(11):2457. doi: 10.3390/ jcm10112457
24. Ichida F, Hamamichi Y, Miyawaki T, Ono Y, Kamiya T, Akagi T, et al. Clinical features of isolated noncompaction of the ventricular myocardium: long-term clinical course, hemodynamic properties, and genetic background. J Am Coll Cardiol. (1999) 34(1):233–40. doi: 10.1016/s0735-1097(99)00170-9
25. Koh C, Lee PW, Yung TC, Lun KS, Cheung YF. Left ventricular noncompaction in children. Congenit Heart Dis. (2009) 4(4):288–94. doi: 10.11 11/j.1747-0803.2009. 00269.x
26. Sabatino J, Di Salvo G, Krupickova S, Fraisse A, Prota C, Bucciarelli V, et al. Left ventricular twist mechanics to identify left ventricular noncompaction in childhood. Circ Cardiovasc Imaging. (2019) 12(4) :e007805. doi: 10.1161/CIRCIMAGING.118. 007805
27.Hotta VT, Tendolo SC, Rodrigues ACT, Fernandes F, Nastari L, Mady C. Limitations in the diagnosis of noncompaction cardiomyopathy by echocardiography. Arq Bras Cardiol. (2017) 109(5):48 3–8. doi: 10.5935/abc.20170152
28. Bekheit S, Karam B, Daneshvar F, Zaidan J, Tabet R, Spagnola J, et al. Sudden cardiac death in isolated right ventricular hypertrabeculation/ noncompaction cardiomyopathy. Ann Noninvasive Electrocardiol. (2018) 23(4):e12487. doi: 10.1111/ anec.12487
29. van Waning JI, Caliskan K, Hoedemaekers YM, van Spaendonck-Zwarts KY, Baas AF, Boekholdt SM, et al. Genetics, clinical features, and long-term outcome of noncompaction cardiomyopathy. J Am Coll Cardiol. (2018) 71(7):711–22. doi: 10. 1016/j. jacc.2017.12.019
30. Ojemolon PE, Evbayekha EO, Odion J, Bello J, Shaka H. Left ventricular noncompaction as a rare cause of syncope. Cureus. (2021) 13(11):e19409. doi: 10. 7759/cureus.19409
31. Stöllberger C, Finsterer J. The relationship between takotsubo syndrome, left ventricular hypertrabeculation/noncompaction, neurologic and neuromuscular disorders. Rev Cardiovasc Med. (2021) 22(4):1413–20. doi: 10.31083/j.rcm2204146
32. Stöllberger C, Finsterer J. Understanding left ventricular hypertrabeculation/ noncompaction: pathomorphologic findings and prognostic impact of neuromuscular comorbidities. Expert Rev Cardiovasc Ther. (2019) 17(2):95–109. doi: 10.1080/14779072.2019.1561280
33. Towbin JA, Jefferies JL. Cardiomyopathies due to left ventricular noncompaction, mitochondrial and storage diseases, and inborn errors of metabolism. Circ Res. (2017) 121(7):838–54. doi: 10.1161/CIRCRESAHA.117.310987
34. Finsterer J. Left ventricular non-compaction and its cardiac and neurologic implications. Heart Fail Rev. (2010) 15(6):589–603. doi: 10.1007/s107 41-010-9175-5
35. Udeoji DU, Philip KJ, Morrissey RP, Phan A, Schwarz ER. Left ventricular noncompaction cardiomyopathy: updated review. Ther Adv Cardiovasc Dis. (2013) 7(5):260–73. doi: 10.1177 /1753944713504639
36. Zuccarino F, Vollmer I, Sanchez G, Navallas M, Pugliese F, Gayete A. Left ventricular noncompaction: imaging findings and diagnostic criteria. AJR Am J Roentgenol. (2015) 204(5):W 519–30. doi: 10.2214/AJR.13.12326
37. Son g ZZ. The treatment of noncompaction of ventricular myocardium. Cardiovasc Ther. (2011) 29(5):315–21. doi: 10.1111/j.1755-5922.2010.00174.x
38.Takamatsu M, Kamohara K, Sato M, Koga Y. Effect of noncompacted myocardial resection on isolated left ventricular noncompaction. Ann Thorac Surg. (2020) 110(5):e387–9. doi: 10.1016/ j.athoracsur.2020.03.071
39. Bellet S, Gouley BA (1932) Congenital heart disease with multiple cardiac anomalies. Am J Med Sci 183(4):458–64
40. Soliman OI, McGhie J, ten Cate FJ, Paelinck BP, Caliskan K (2019) Multimodality imaging, diagnostic challenges and proposed diagnostic algorithm for noncompaction cardiomyopathy. In: Caliskan K, Soliman OI, ten Cate FJ (eds) Noncompaction Cardiomyopathy. Springer International Publishing, Cham, pp 17–40
41. Børresen, M.F.; Blixenkrone-Møller, E.; Kock, T.O.; Sillesen, A.-S.; Vøgg, R.O.B.; Pihl, C.A.; Norsk, J.B.; Vejlstrup, N.G.; Christensen, A.H.; Iversen, K.K.; et al. Prevalence of Left Ventricular Noncompaction in Newborns. Circ. Cardiovasc. Imaging 2022, 15, e014159. [CrossRef] [PubMed
42. Tian, L.; Zhou, Q.; Zhou, J.; Zeng, S.; Cao, D.; Zhang, M. Ventricular Non-Compaction Cardiomyopathy: Prenatal Diagnosis and Pathology. Prenat. Diagn. 2015, 35, 221–227. [CrossRef] [PubMed]
43. Jenni, R.; Oechslin, E.; Schneider, J.; Attenhofer Jost, C.; Kaufmann, P.A. Echocardiographic and Pathoanatomical Characteristics of Isolated Left Ventricular Non-Compaction: A Step towards Classification as a Distinct Cardiomyopathy. Heart 2001, 86, 666–671. [CrossRef] [PubMed]
44. Stöllberger, C.; Finsterer, J.; Blazek, G. Left Ventricular Hypertrabeculation/Noncompaction and Association with Additional Cardiac Abnormalities and Neuromuscular Disorders. Am. J. Cardiol. 2002, 90, 899–902. [CrossRef] [PubMed]
45. Pignatelli, R.H.; McMahon, C.J.; Dreyer, W.J.; Denfield, S.W.; Price, J.; Belmont, J.W.; Craigen, W.J.; Wu, J.; El Said, H.; Bezold, L.I.; et al. Clinical Characterization of Left Ventricular Noncompaction in Children: A Relatively Common Form of Cardiomyopathy. Circulation 2003, 108, 2672–2678. [CrossRef]
46. Aras, D.; Tufekcioglu, O.; Ergun, K.; Ozeke, O.; Yildiz, A.; Topaloglu, S.; Deveci, B.; Sahin, O.; Kisacik, H.L.; Korkmaz, S. Clinical Features of Isolated Ventricular Noncompaction in Adults Long-Term Clinical Course, Echocardiographic Properties, and Predictors of Left Ventricular Failure. J. Card. Fail. 2006, 12, 726–733. [CrossRef]
47. Stanton, C.; Bruce, C.; Connolly, H.; Brady, P.; Syed, I.; Hodge, D.; Asirvatham, S.; Friedman, P. Isolated Left Ventricular Noncompaction Syndrome. Am. J. Cardiol. 2009, 104, 1135–1138. [CrossRef]
48. Oechslin, E.N.; Attenhofer Jost, C.H.; Rojas, J.R.; Kaufmann, P.A.; Jenni, R. Long-Term Follow-up of 34 Adults with Isolated Left Ventricular Noncompaction: A Distinct Cardiomyopathy with Poor Prognosis. J. Am. Coll. Cardiol. 2000, 36, 493–500. [CrossRef]
49. Rath, A.; Weintraub, R. Overview of Cardiomyopathies in Childhood. Front. Pediatr. 2021, 9, 708732. [CrossRef] [PubMed]
50. Daubeney, P.E.F.; Nugent, A.W.; Chondros, P.; Carlin, J.B.; Colan, S.D.; Cheung, M.; Davis, A.M.; Chow, C.W.; Weintraub, R.G. Clinical Features and Outcomes of Childhood Dilated Cardiomyopathy: Results from a National Population-Based Study. Circulation 2006, 114, 2671–2678. [CrossRef] [PubMed]
51. Lee TM, Hsu DT, Kantor P, Towbin JA, Ware SM, Colan SD et al (2017) Pediatric cardiomyopathies. Circ Res 121(7):855–73
52. Shi WY, Moreno-Betancur M, Nugent AW, Cheung M, Colan S, Turner C et al (2018) Long-term outcomes of childhood left ventricular noncompaction cardiomyopathy: results from a national population-based study. Circulation 138(4):367–76
53. Jeferies JL, Wilkinson JD, Sleeper LA, Colan SD, Lu M, Pahl E et al (2015) Cardiomyopathy phenotypes and outcomes for children with left ventricular myocardial noncompaction: results from the pediatric cardiomyopathy registry. J Card Fail 21(11):877–84
54. Jefferies, J.L.; Wilkinson, J.D.; Sleeper, L.A.; Colan, S.D.; Lu, M.; Pahl, E.; Kantor, P.F.; Everitt, M.D.; Webber, S.A.; Kaufman, B.D.; et al. Cardiomyopathy Phenotypes and Outcomes for Children with Left Ventricular Myocardial Noncompaction: Results from the Pediatric Cardiomyopathy Registry. J. Card. Fail. 2015, 21, 877–884. [CrossRef]
55. Liu Y, Chen H, Shou W (2018) Potential Common pathogenic pathways for the left ventricular noncompaction cardiomyopathy (LVNC). Pediatr Cardiol
56. Chin TK, Perlof JK, Williams RG, Jue K, Mohrmann R (1990) Isolated noncompaction of left ventricular myocardium. A study of eight cases. Circulation 82(2):507–13
57. Luxán, G.; Casanova, J.C.; Martínez-Poveda, B.; Prados, B.; D’Amato, G.; MacGrogan, D.; Gonzalez-Rajal, A.; Dobarro, D.; Torroja, C.; Martinez, F.; et al. Mutations in the NOTCH Pathway Regulator MIB1 Cause Left Ventricular Noncompaction Cardiomyopathy. Nat. Med. 2013, 19, 193–201. [CrossRef] [PubMed]
58. Choquet, C.; Nguyen, T.H.M.; Sicard, P.; Buttigieg, E.; Tran, T.T.; Kober, F.; Varlet, I.; Sturny, R.; Costa, M.W.; Harvey, R.P.; et al. Deletion of Nkx2-5 in Trabecular Myocardium Reveals the Developmental Origins of Pathological Heterogeneity Associated with Ventricular Non-Compaction Cardiomyopathy. PLoS Genet. 2018, 14, e1007502. [CrossRef]
59. Chin, T.K.; Perloff, J.K.; Williams, R.G.; Jue, K.; Mohrmann, R. Isolated Noncompaction of Left Ventricular Myocardium. A Study of Eight Cases. Circulation 1990, 82, 507–513. [CrossRef] [PubMed]
60. Hussein, A.; Karimianpour, A.; Collier, P.; Krasuski, R.A. Isolated Noncompaction of the Left Ventricle in Adults. J. Am. Coll. Cardiol. 2015, 66, 578–585. [CrossRef]
61. El-Menyar AA, Gendi SM, Numan MT (2007) Noncompaction cardiomyopathy in the State of Qatar. Saudi Med J 28(3):429–34
62. Handlos P, Gruszka T, Stankova M, Marecova K, Joukal M (2017) Biventricular noncompaction cardiomyopathy with malignant arrhythmia as a cause of sudden death. Forensic Sci Med Pathol 13(4):495–9
63. Cohen PJ, Prahlow JA (2015) Sudden death due to biventricular non-compaction cardiomyopathy in a 14-year-old. Forensic Sci Med Pathol 11(1):92–8 64. Sirin BH, Kurdal AT, Iskesen I, Cerrahoglu M (2010) Right ventricular outfow obstruction of the patient with biventricular noncompaction. Thorac Cardiovasc Surg 58(6):364–6
64. Tomar M, Radhakrishnan S (2009) Biventricular noncompaction: a rare cause of fetal distress and tricuspid regurgitation. Images Paediatr Cardiol 11(4):1–5
65. Grattan MJ, Bufo-Sequeira I, Fortier M, Pepelassis D (2009) Biventricular noncompaction in a patient with dextrocardia/dextroversion diagnosed with cardiac magnetic resonance imaging. Can J Cardiol 25(9):e335-6
66. Roberts AE, Nixon C, Steward CG, Gauvreau K, Maisenbacher M, Fletcher M et al (2012) The Barth Syndrome Registry: distinguishing disease characteristics and growth data from a longitudinal study. Am J Med Genet A 158A(11):2726–32
67. Tigen K, Karaahmet T, Gurel E, Cevik C, Basaran Y (2008) Biventricular noncompaction: a case report. Echocardiography 25(9):993–6
68. Brescia ST, Rossano JW, Pignatelli R, Jeferies JL, Price JF, Decker JA et al (2013) Mortality and sudden death in pediatric left ventricular noncompaction in a tertiary referral center. Circulation 127(22):2202–8
69. Wald R, Veldtman G, Golding F, Kirsh J, McCrindle B, Benson L (2004) Determinants of outcome in isolated ventricular noncompaction in childhood. Am J Cardiol 94(12):1581–4
70. Ozkutlu S, Ayabakan C, Celiker A, Elshershari H (2002) Noncompaction of ventricular myocardium: a study of twelve patients. J Am Soc Echocardiogr 15(12):1523–8
71. El-Menyar AA, Gendi SM, Numan MT (2007) Noncompaction cardiomyopathy in the State of Qatar. Saudi Med J 28(3):429–34
72. Ozgur S, Senocak F, Orun UA, Ocal B, Karademir S, Dogan V et al (2011) Ventricular non-compaction in children: clinical characteristics and course. Interact Cardiovasc Thorac Surg 12(3):370–3
73. Tian T, Yang Y, Zhou L, Luo F, Li Y, Fan P et al (2018) Left ventricular non-compaction: a cardiomyopathy with acceptable prognosis in children. Heart Lung Circ 27(1):28–32
74. Zuckerman WA, Richmond ME, Singh RK, Carroll SJ, Starc TJ, Addonizio LJ (2011) Left-ventricular noncompaction in a pediatric population: predictors of survival. Pediatr Cardiol 32(4):406–12
75. Ergul Y, Nisli K, Demirel A, Varkal MA, Oner N, Dursun M et al (2011) Left ventricular non-compaction in children and adolescents: clinical features, treatment and follow-up. Cardiol J18(2):176–84
76. Koh C, Lee PW, Yung TC, Lun KS, Cheung YF (2009) Left ventricular noncompaction in children. Congenit Heart Dis 4(4):288–94
77. Tsai SF, Ebenroth ES, Hurwitz RA, Cordes TM, Schamberger MS, Batra AS (2009) Is left ventricular noncompaction in children truly an isolated lesion? Pediatr Cardiol 30(5):597–602
78. Fazio G, Pipitone S, Iacona MA, Marchi S, Mongiovi M, Zito R et al (2007) The noncompaction of the left ventricular myocardium: our paediatric experience. J Cardiovasc Med (Hagerstown) 8(11):904–8
79. Lilje C, Razek V, Joyce JJ, Rau T, Finckh BF, Weiss F et al (2006) Complications of non-compaction of the left ventricular myocardium in a paediatric population: a prospective study. Eur Heart J 27(15):1855–60
80. Finsterer J, Stollberger C, Fazio G (2010) Neuromuscular disorders in left ventricular hypertrabeculation/noncompaction. Curr Pharm Des 16(26):2895–904
81. Stollberger C, Finsterer J, Blazek G, Bittner RE (1996) Left ventricular non-compaction in a patient with Becker’s muscular dystrophy. Heart (British Cardiac Society) 76(4):380
82. Statile CJ, Taylor MD, Mazur W, Cripe LH, King E, Pratt J et al (2013) Left ventricular noncompaction in Duchenne muscular dystrophy. J Cardiovasc Magn Reson 15:67
83. Kimura K, Takenaka K, Ebihara A, Uno K, Morita H, Nakajima T et al (2013) Prognostic impact of left ventricular noncompaction in patients with Duchenne/Becker muscular dystrophy–prospective multicenter cohort study. Int J Cardiol 168(3):1900–4
84. Arunamata A, Punn R, Cuneo B, Bharati S, Silverman NH (2012) Echocardiographic diagnosis and prognosis of fetal left ventricular noncompaction. J Am Soc Echocardiogr: Ofcial Publication of the Am Soc Echocardiogr 25(1):112–20
85. Ozkutlu S, Bostan O, Karagoz T, Deren O, Tekinalp G (2007) Prenatal diagnosis of isolated non-compaction of the ventricular myocardium: study of six cases. Pediatr Int: Ofcial J Japan Pediatr Soc 49(2):172–6
86. Tian L, Zhou Q, Zhou J, Zeng S, Cao D, Zhang M (2015) Ventricular non-compaction cardiomyopathy: prenatal diagnosis and pathology. Prenatal Diagn 35(3):221–7
87. Weber R, Kantor P, Chitayat D, Friedberg MK, Golding F, Mertens L et al (2014) Spectrum and outcome of primary cardiomyopathies diagnosed during fetal life. JACC Heart Fail 2(4):403–11
88. Stollberger C, Wegner C, Finsterer J (2015) Fetal Ventricular Hypertrabeculation/noncompaction: clinical presentation, genetics, associated cardiac and extracardiac abnormalities and outcome. Pediatr Cardiol 36(7):1319–26
89. Gardiner HM (2018) Advances in fetal echocardiography. Semin Fetal Neonatal Med 23(2):112–8
90. Arbustini E, Favalli V, Narula N, Serio A, Grasso M (2016) Left ventricular noncompaction: a distinct genetic cardiomyopathy? J Am Coll Cardiol 68(9):949–66
91. Finsterer J (2009) Cardiogenetics, neurogenetics, and pathogenetics of left ventricular hypertrabeculation/noncompaction. Pediatr Cardiol 30(5):659–81
92. Finsterer J, Stollberger C, Towbin JA (2017) Left ventricular noncompaction cardiomyopathy: cardiac, neuromuscular, and genetic factors. Nat Rev Cardiol 14(4):224–37
93. Dong X, Fan P, Tian T, Yang Y, Xiao Y, Yang K et al (2017) Recent advancements in the molecular genetics of left ventricular noncompaction cardiomyopathy. Clin Chim Acta; Int J Clin Chem 465:40–4
94. van Waning JI, Caliskan K, Michels M, Schinkel AFL, Hirsch A, Dalinghaus M et al (2019) Cardiac phenotypes, genetics, and risks in familial noncompaction cardiomyopathy. J Am Coll Cardiol 73(13):1601–11
95. Udeoji DU, Philip KJ, Morrissey RP, Phan A, Schwarz ER (2013) Left ventricular noncompaction cardiomyopathy: updated review. Ther Adv Cardiovasc Dis 7(5):260–73
96. Klaassen S, Probst S, Oechslin E, Gerull B, Krings G, Schuler P et al (2008) Mutations in sarcomere protein genes in left ventricular noncompaction. Circulation 117(22):2893–901
97. Dellefave LM, Pytel P, Mewborn S, Mora B, Guris DL, Fedson S et al (2009) Sarcomere mutations in cardiomyopathy with left ventricular hypertrabeculation. Circ Cardiovasc Genet 2(5):442–9
98. Towbin JA, Bowles NE (2002) The failing heart. Nature 415(6868):227–33
99. Towbin JA, Jeferies JL (2017) Cardiomyopathies due to left ventricular noncompaction, mitochondrial and storage diseases, and inborn errors of metabolism. Circ Res 121(7):838–54
100. van Waning JI, Moesker J, Heijsman D, Boersma E, MajoorKrakauer D (2019) Systematic review of genotype-phenotype correlations in noncompaction cardiomyopathy. J Am Heart Assoc 8(23):e012
101. Stollberger C, Finsterer J, Blazek G (2002) Left ventricular hypertrabeculation/noncompaction and association with additional cardiac abnormalities and neuromuscular disorders. Am J Cardiol 90(8):899–902
102. Oechslin EN, Attenhofer Jost CH, Rojas JR, Kaufmann PA, Jenni R (2000) Long-term follow-up of 34 adults with isolated left ventricular noncompaction: a distinct cardiomyopathy with poor prognosis. J Am Coll Cardiol 36(2):493–500
103. Kohli SK, Pantazis AA, Shah JS, Adeyemi B, Jackson G, McKenna WJ et al (2008) Diagnosis of left-ventricular non-compaction in patients with left-ventricular systolic dysfunction: time for a reappraisal of diagnostic criteria? Eur Heart J 29(1):89–95
104. Petersen SE, Selvanayagam JB, Wiesmann F, Robson MD, Francis JM, anderson RH et al (2005) Left ventricular non-compaction: insights from cardiovascular magnetic resonance imaging. J Am Coll Cardiol 46(1):101–5
105. Jacquier A, Thuny F, Jop B, Giorgi R, Cohen F, Gaubert JY et al (2010) Measurement of trabeculated left ventricular mass using cardiac magnetic resonance imaging in the diagnosis of left ventricular non-compaction. Eur Heart J 31(9):1098–104
106. Yubbu P, Nawaytou HM, Calderon-Anyosa R, Banerjee A (2018) Diagnostic value of myocardial deformation pattern in children with noncompaction cardiomyopathy. Int J Cardiovasc Imaging
107. Parent JJ, Towbin JA, Jeferies JL (2016) Medical therapy leads to favorable remodeling in left ventricular non-compaction cardiomyopathy: dilated phenotype. Pediatr Cardiol 37(4):674–7
108. Masarone D, Valente F, Rubino M, Vastarella R, Gravino R, Rea A, et al. Pediatric heart failure: a practical guide to diagnosis and management. Pediatr Neonatol. (2017) 58(4):303–12. doi: 10.1016/j.pedneo.2017.01.001
109. Toyono M, Kondo C, Nakajima Y, Nakazawa M, Momma K, Kusakabe K. Effects of carvedilol on left ventricular function, mass, and scintigraphic findings in isolated left ventricular non-compaction. Heart. (2001) 86(1):E4. doi: 10.1136/heart. 86.1.e4
110. Parent JJ, Towbin JA, Jefferies JL. Medical therapy leads to favorable remodeling in left ventricular non-compaction cardiomyopathy: dilated phenotype. Pediatr Cardiol. (2016) 37(4):674–7. doi: 10.1007/s00246-015-1330-2
111. Yancy CW, Jessup M, Bozkurt B, Butler J, Casey DE Jr, Colvin MM, et al. 2017 ACC/AHA/HFSA focused update of the 2013 ACCF/AHA guideline for the management of heart failure: a report of the American college of cardiology/ American heart association task force on clinical practice guidelines and the heart failure society of America. Circulation. (2017) 136(6):e 137–61. doi: 10.1161/CIR. 0000000000000509
112. 杜朝阳 高路, 崔烺 等. 伊伐布雷定治疗儿童心力衰竭的研究现状[ J]. 中国临 床药理学杂志. (2020) 36(15):2373–6. doi: 10.13699/j.cnki.1001-6821.20 20.15.060
113. Bocchi EA, Salemi VMC. Ivabradine for treatment of heart failure. Expert Opin Drug Saf. (2019) 18(5):393–402. doi: 10.1080/14740338. 2019.1612873
114. Swedberg K, Komajda M, Böhm M, Borer JS, Ford I, Dubost-Brama A, et al. Ivabradine and outcomes in chronic heart failure (SHIFT): a randomised placebocontrolled study. Lancet. (2010) 376(9744):875–85; Erratum in: Lancet. (2010);376 (9757):1988. Lajnscak, M [corrected to Lainscak, M]; Rabanedo, I Roldan [corrected to Rabadán, I Roldan]; Leva, M [corrected to Ieva, M]. doi: 10.1016/S0140-6736(10) 61198-1
115. Lechat P, Hulot JS, Escolano S, Mallet A, Leizorovicz A, Werhlen-Grandjean M, et al. Heart rate and cardiac rhythm relationships with bisoprolol benefit in chronic heart failure in CIBIS II trial. Circulation. (2001) 103(10):1428–33. doi: 10.1161/01. cir.103.10.1428
116. Klugman D, Goswami ES, Berger JT. Pediatric cardiac intensive care society 2014 consensus statement: pharmacotherapies in cardiac critical care antihypertensives. Pediatr Crit Care Med. (2016) 17(3 Suppl 1):S101–8. doi: 10. 1097/PCC. 0000000000000621
117. US FOOD AND DRUG ADMINISTRATION (FDA). Corlanor (ivabradine)[EB/ OL]. Washington, DC: FDA. (2019). Available at: https://www.accessdata.fda.gov/drugsatfda_docs/lable/2019/209964lbl .pdf (January 10, 2017).
118. Bonnet D, Berger F, Jokinen E, Kantor PF, Daubeney PEF. Ivabradine in children with dilated cardiomyopathy and symptomatic chronic heart failure. J Am Coll Cardiol. (2017) 70(10):1262–72. doi: 10.1016/j.jacc.2017.07.725
119. Deedwania P. Selective and specific inhibition of if with ivabradine for the treatment of coronary artery disease or heart failure. Drugs. (2013) 73(14):1569–86. doi: 10.1007/s40265-013-0117-0
120. Badu-Boateng C, Jennings R, Hammersley D. The therapeutic role of ivabradine in heart failure. Ther Adv Chronic Dis. (2018) 9(11):199–207. doi: 10.1177/ 2040622318784556
121. Shaddy RE, Boucek MM, Hsu DT, Boucek RJ, Canter CE, Mahony L, et al. Carvedilol for children and adolescents with heart failure: a randomized controlled trial. JAMA. (2007) 298(10):1171–9. doi: 10.1001/jama.298.10.1171
122. Huang M, Zhang X, Chen S, Sun Y, Xiao Y, Sun J, et al. The effect of carvedilol treatment on chronic heart failure in pediatric patients with dilated cardiomyopathy: a prospective, randomized-controlled study. Pediatr Cardiol. (2013) 34(3):680–5. doi: 10.1007/s00246-012-0527-x
123. Recla S, Schmidt D, Logeswaran T, Esmaeili A, Schranz D. Pediatric heart failure therapy: why β1-receptor blocker, tissue ACE-I and mineralocorticoid-receptorblocker? Transl Pediatr. (2019) 8(2):127–32. doi: 10.21037/tp.2019.04.08
124. Channer KS, McLean KA, Lawson-Matthew P, Richardson M. Combination diuretic treatment in severe heart failure: a randomised controlled trial. Br Heart J. (1994) 71(2):146–50. doi: 10.1136/hrt. 71.2.146
125. Stöllberger C, Blazek G, Dobias C, Hanafin A, Wegner C, Finsterer J. Frequency of stroke and embolism in left ventricular hypertrabeculation /noncompaction. Am J Cardiol. (2011) 108(7):1 021–3. doi: 10.1016/j.amjcard.2011.05.039
126. Wu M. Mechanisms of trabecular formation and specification during cardiogenesis. Pediatr Cardiol. (2018) 39(6):1082–9. doi: 10.1007/s00246-018-1868-x
127. Law YM, Lal AK, Chen S, Čiháková D, Cooper LT Jr, Deshpande S, et al. Diagnosis and management of myocarditis in children: a scientific statement from the American heart association. Circulation. (2021) 144(6):e123–35. doi: 10.1161/ CIR.0000000000001001
128. Hashemi H, Raza FS, Harmon DM, Alias T, Felius J, Sherwood MJ. Usefulness of a left ventricular assist device in patients with left ventricular noncompaction. Proc (Bayl Univ Med Cent). (2018) 31(1):61–3. doi: 10.1080/08998280. 2017.1401342
129. Conraads V, Paelinck B, Vorlat A, Goethals M, Jacobs W, Vrints C. Isolated non-compaction of the left ventricle: a rare indication for transplantation. J Heart Lung Transplant. (2001) 20(8):904–7. doi: 10.1016/s1053-2498(01)00264-9
130. Strüber M, Meyer AL, Malehsa D, Kugler C, Simon AR, Haverich A. The current status of heart transplantation and the development of “artificial heart systems”. Dtsch Arztebl Int. (2009) 106(28-29):471–7. doi: 10.3238/arztebl.2009.0471
131. Zetina-Tun HJ, Careaga-Reyna G, Galván-Díaz J, Sánchez-Uribe M. Trasplante cardiaco: una opción para tratamiento del miocardio no compactado aislado de ventrículo izquierdo. Primer caso en México [Heart transplantation for the treatment of isolated left ventricular myocardial noncompaction. First case in Mexico]. Cir Cir. (2017) 85(6):539–43. doi: 10.1016/j.circir.2016.09.001
132. Brescia ST, Rossano JW, Pignatelli R, Jefferies JL, Price JF, Decker JA, et al. Mortality and sudden death in pediatric left ventricular noncompaction in a tertiary referral center. Circulation. (2013) 127(22) :2202–8. doi: 10.1161/ CIRCULATIONAHA.113.002511
133. Stöllberger C, Wegner C, Benatar A, Chin TK, Dangel J, Majoor-Krakauer D, et al. Postnatal outcome of fetal left ventricular hypertrabeculation /noncompaction. Pediatr Cardiol. (2016) 37(5):919 –24. doi: 10.1007/s00246-016-1369-8
134. Al-Kindi SG, El-Amm C, Ginwalla M, Hoit BD, Park SJ, Oliveira GH. Heart transplant outcomes in patients with left ventricular non-compaction cardiomyopathy. J Heart Lung Transplant. (2015) 34(6):761–5. doi: 10.1016/j. healun.2014.11.005
135. Lakdawala NK. Big data for a rare disease: examining heart transplantation for left ventricular noncompaction in the united network of organ sharing registry. J Heart Lung Transplant. (2015) 34(6):759–60. doi: 10.1016/j.healun.2015.03.019
136. Fazio G, Corrado G, Zachara E, Rapezzi C, Sulafa AK, Sutera L, et al. Ventricular tachycardia in non-compaction of left ventricle: is this a frequent complication? Pacing Clin Electrophysiol. (2007) 30(4):544–6. doi: 10.1111/j.1540-8159.2007.00706.x
137. Kida K, Yoneyama K, Kobayashi Y, Takano M, Akashi YJ, Miyake F. Late gadolinium enhancement on cardiac magnetic resonance images predicts reverse remodeling in patients with nonischemic cardiomyopathy treated with carvedilol. Int J Cardiol. (2013) 168(2):1588–9. doi: 10.1016/j.ijcard.2013.01.043
138. Haverkamp W, Martinez-Rubio A, Hief C, Lammers A, Mühlenkamp S, Wichter T, et al. Efficacy and safety of d,l-sotalol in patients with ventricular tachycardia and in survivors of cardiac arrest. J Am Coll Cardiol. (1997) 30(2):487–95. doi: 10.1016/ s0735-1097(97)00190-3
139. Valdés SO, Miyake CY, Niu MC, de la Uz CM, Asaki SY, Landstrom AP, et al. Early experience with intravenous sotalol in children with and without congenital heart disease. Heart Rhythm. (2018) 15(12):1862–9. doi: 10.1016/j.hrthm.2018. 07.010.
140. Cuculich PS, Schill MR, Kashani R, Mutic S, Lang A, Cooper D, et al. Noninvasive cardiac radiation for ablation of ventricular tachycardia. N Engl J Med. (2017) 377(24):2325–36. doi: 10.1056 /NEJMoa1613773
141. Li Q, Miao L, Xia L, Abdelnasser HY, Zhang F, Lu Y, et al. Left ventricular noncompaction is associated with valvular regurgitation and a variety of arrhythmias. J Cardiovasc Dev Dis. (2022) 9(2):49. doi: 10.3390/jcdd902004
142. Sohns C, Ouyang F, Volkmer M, Metzner A, Nürnberg JH, Ventura R, et al. Therapy of ventricular arrhythmias in patients suffering from isolated left ventricular non-compaction cardiomyopathy. Europace. (2019) 21(6):961–9. doi: 10. 1093/europace/euz016
143. Epstein AE, DiMarco JP, Ellenbogen KA, Estes NA 3rd, Freedman RA, Gettes LS, et al. ACC/AHA/HRS 2008 guidelines for device-based therapy of cardiac rhythm abnormalities: a report of the American college of cardiology/American heart association task force on practice guidelines (writing committee to revise the ACC/AHA/NASPE 2002 guideline update for implantation of cardiac pacemakers and antiarrhythmia devices) developed in collaboration with the American association for thoracic surgery and society of thoracic surgeons. J Am Coll Cardiol. (2008) 51(21):e1–62. doi: 10.1016/j.jacc.2008.02.032
144. Sato Y, Matsumoto N, Takahashi H, Imai S, Yoda S, Kasamaki Y, et al. Cardioverter defibrillator implantation in an adult with isolated noncompaction of the ventricular myocardium. Int J Cardiol. (2006) 110(3):417–9. doi: 10.1016/j. ijcard.2005.08.056
145. Grupa Robocza Europejskiego Towarzystwa Kardiologicznego (ESC) do spraw rozpoznawania i postepowania w kardiomiopatii przerostowej, Elliott PM, Anastasakis A, Borger MA, Borggrefe M, Cecchi F, Charron P, et al. Wytyczne ESC dotyczące rozpoznawania i postępowania w kardiomiopatii przerostowej w 2014 roku [2014 ESC guidelines on diagnosis and management of hypertrophic cardiomyopathy]. Kardiol Pol. (2014) 72(11):1054–126. doi: 10.5603/KP.2014.0212
146. Petersen SE, Selvanayagam JB, Wiesmann F, Robson MD, Francis JM, Anderson RH, et al. Left ventricular non-compaction: insights from cardiovascular magnetic resonance imaging. J Am Coll Cardiol. (2005) 46(1):101–5. doi: 10.1016/j.jacc .2005.03.045
147. Caliskan K, Szili-Torok T, Theuns DA, Kardos A, Geleijnse ML, Balk AH, et al. Indications and outcome of implantable cardioverter-defibrillators for primary and secondary prophylaxis in patients with noncompaction cardiomyopathy. J Cardiovasc Electrophysiol. (2011) 22(8):898–904. doi: 10.1111 /j.1540-8167.2011.02015.x
148. Cetin MS, Ozcan Cetin EH, Canpolat U, Cay S, Topaloglu S, Temizhan A, et al. Usefulness of fragmented QRS complex to predict arrhythmic events and cardiovascular mortality in patients with noncompaction cardiomyopathy. Am J Cardiol. (2016) 117(9):1516–23. doi: 10.1016/j.amjcard. 2016.02.022
149. Derval N, Jais P, O’Neill MD, Haissaguerre M. Apparent idiopathic ventricular tachycardia associated with isolated ventricular noncompaction. Heart Rhythm. (2009) 6(3):385–8. doi: 10.1016/j. hrthm.2008.11.020
150. Grigoratos C, Barison A, Ivanov A, Andreini D, Amzulescu MS, Mazurkiewicz L, et al. Meta-analysis of the prognostic role of late gadolinium enhancement and global systolic impairment in left ventricular noncompaction. JACC Cardiovasc Imaging. (2019) 12(11 Pt 1):2141–51. doi: 10.1016 /j.jcmg.2018.12.029
151. Jenni R, Oechslin EN, van der Loo B. Isolated ventricular non-compaction of the myocardium in adults. Heart. (2007) 93(1):11–5. doi: 10.1136/hrt. 2005.082271
152. Muser D, Nucifora G, Gianfagna E, Pavoni D, Rebellato L, Facchin D, et al.. Clinical spectrum of isolated left ventricular noncompaction: thromboembolic events, malignant left ventricular arrhythmias, and refractory heart failure. J Am Coll Cardiol. (2014) 63(16):e39. doi: 10.1016/j.jacc. 2013.11.063
153. Ritter M, Oechslin E, Sütsch G, Attenhofer C, Schneider J, Jenni R. Isolated noncompaction of the myocardium in adults. Mayo Clin Proc. (1997) 72(1):26–31. doi: 10.4065/72.1.26
154. Homma S, Thompson JL, Pullicino PM, Levin B, Freudenberger RS, Teerlink JR, et al. Warfarin and aspirin in patients with heart failure and sinus rhythm. N Engl J Med. (2012) 366(20):1859–69. doi: 10.1056/NEJMoa1202299
155. Rengo G, Pagano G, Squizzato A, Moja L, Femminella GD, de Lucia C, et al. Oral anticoagulation therapy in heart failure patients in sinus rhythm: a systematic review and meta-analysis. PLoS One. (2013) 8(1):e52952. doi: 10.1371/journal.pone. 0052952
156. Bocchi EA, Marcondes-Braga FG, Bacal F, Ferraz AS, Albuquerque D, Rodrigues Dde A, et al. Sociedade Brasileira de Cardiologia. III Diretriz brasileira de insuficiência cardíaca crnica. Arq Bras Cardiol. (2009) 93(1):1–71. doi: 10.1590/S0066- 782X2012001000001
157. Murphy RT, Thaman R, Blanes JG, Ward D, Sevdalis E, Papra E, et al. Natural history and familial characteristics of isolated left ventricular non-compaction. Eur Heart J. (2005) 26(2):187–92. doi: 10.1093/eurheartj/ehi025
158. Weiford BC, Subbarao VD, Mulhern KM. Noncompaction of the ventricular myocardium. Circulation. (2004) 109(24):2965–71. doi: 10.1161/01.CIR.0000132478. 60674.D0
159. Levine MN, Raskob G, Beyth RJ, Kearon C, Schulman S. Hemorrhagic complications of anticoagulant treatment: the seventh ACCP conference on antithrombotic and thrombolytic therapy. Chest. (2004) 126(3 Suppl):287S–310S. doi: 10.1378/chest.126.3_suppl.287S
160. Ng HJ, Crowther MA. New anti-thrombotic agents: emphasis on hemorrhagic complications and their management. Semin Hematol. (2006) 43(1 Suppl 1):S77–83. doi: 10.1053/j.seminhematol .2005.11.023
161. Crowther MA, Warkentin TE. Bleeding risk and the management of bleeding complications in patients undergoing anticoagulant therapy: focus on new anticoagulant agents. Blood. (2008) 111 (10):4871–9. doi: 10.1182/blood-2007-10- 120543
162. Turpie AG, Bauer KA, Eriksson BI, Lassen MR. Fondaparinux vs enoxaparin for the prevention of venous thromboembolism in major orthopedic surgery: a metaanalysis of 4 randomized double-blind studies. Arch Intern Med. (2002) 162 (16):1833–40. doi: 10.1001/archinte.162.16.1833
163. Dreijer AR, Diepstraten J, Brouwer R, Croles FN, Kragten E, Leebeek FWG, et al. Risk of bleeding in hospitalized patients on anticoagulant therapy: prevalence and potential risk factors. Eur J Intern Med. (2019) 62:17–23. doi: 10.1016/j.ejim. 2019.01.008
164. Gan C, Hu J, Luo S, An Q, Lin K. Surgical restoration of left ventricular diastolic function: possible treatment for noncompaction cardiomyopathy. J Card Surg. (2014) 29(6):827–8. doi: 10.1111/jocs.12339
165. Agmon Y, Connolly HM, Olson LJ, Khandheria BK, Seward JB. Noncompaction of the ventricular myocardium. J Am Soc Echocardiogr. (1999) 12 (10):859–63. doi: 10.1016/s0894-7317(99)70192-6
166. Stöllberger C, Finsterer J. Is surgical removal of the noncompacted layer the clue to treat left ventricular hypertrabeculation/noncompaction? J Card Surg. (2014) 29(6):837–8. doi: 10.1111/ jocs.12438
167. Finsterer J, Stöllberger C, Towbin JA. Left ventricular noncompaction cardiomyopathy: cardiac, neuromuscular, and genetic factors. Nat Rev Cardiol. (2017) 14(4):224–37. doi: 10.1038/nrcardi o.2016.207
168. Cao F, Yang Z, Yin L. A fetal mouse model of ventricular non-compaction using retinoic acid. Pathol Res Pract. (2019) 215(8):152496. doi: 10.10 16/j.prp.2019. 152496
169. Strong A, Musunuru K. Genome editing in cardiovascular diseases. Nat Rev Cardiol. (2017) 14(1):11–20. doi: 10.1038/nrcardio.2016.139
170. Zou J, Tran D, Baalbaki M, Tang LF, Poon A, Pelonero A, et al. An internal promoter underlies the difference in disease severity between N- and C-terminal truncation mutations of Titin in zebrafish. Elife. (2015) 4:e09406. doi: 10.7554/ eLife. 09406
171. Jaffré F, Miller CL, Schänzer A, Evans T, Roberts AE, Hahn A, et al. Inducible pluripotent stem cell-derived cardiomyocytes reveal aberrant extracellular regulated kinase 5 and mitogen-activated protein kinase kinase 1/2 signaling concomitantly promote hypertrophic cardiomyopathy in RAF1- associated noonan syndrome. Circulation. (2019) 140(3):207–24. doi: 10.1161/ CIRCULATION AHA.118.037227
172. Montag J, Petersen B, Flögel AK, Becker E, Lucas-Hahn A, Cost GJ, et al. Successful knock-in of hypertrophic cardiomyopathy-mutation R723G into the Li and Wang 10.3389/fped.2023.1147362 Frontiers in Pediatrics 10 frontiers MYH7 gene mimics HCM pathology in pigs. Sci Rep. (2018) 8(1):4786. doi: 10.1038/ s41598-018-22936-z
173. Ma H, Marti-Gutierrez N, Park SW, Wu J, Lee Y, Suzuki K, et al. Correction of a pathogenic gene mutation in human embryos. Nature. (2017) 548(7668):413–9. doi: 10.1038/nature23305
174. Greutmann M, Mah ML, Silversides CK, Klaassen S, Attenhofer Jost CH, Jenni R, et al. Predictors of adverse outcome in adolescents and adults with isolated left ventricular noncompaction. Am J Cardiol. (2012) 109(2):276–81. doi: 10.1016/j. amjcard.2011.08.043
175. Hirono K, Miyao N, Yoshinaga M, Nishihara E, Yasuda K, Tateno S, et al. A significance of school screening electrocardiogram in the patients with ventricular noncompaction. Heart Vessels. (2020) 35(7):985–95. doi: 10.1007/s00380-020-01571-7
176. Towbin JA, Lorts A, Jefferies JL. Left ventricular non-compaction cardiomyopathy. Lancet. (2015) 386(9995):813–25. doi: 10.1016/S01 40-6736(14) 61282-4
177. Towbin JA, Beasley G. Left ventricular noncompaction and vigorous physical activity: what is the connection? J Am Coll Cardiol. (2020) 76(15):1734–6. doi: 10. 1016/j.jacc.2020.08.051
178. Pelliccia A, Sharma S, Gati S, Bäck M, Börjesson M, Caselli S, et al. 2020 ESC guidelines on sports cardiology and exercise in patients with cardiovascular disease. Eur Heart J. (2021) 42(1):17–96. doi: 10.1093/eurheartj/ehaa605
179. Pignatelli RH, McMahon CJ, Dreyer WJ, Denfield SW, Price J, Belmont JW, Craigen WJ, Wu J, El Said H, Bezold LI, Clunie S, Fernbach S, Bowles NE, Towbin JA. Clinical characterization of left ventricular noncompaction in children: a relatively common form of cardiomyopathy. Circulation. 2003;108:2672–2678. doi: 10.1161/01. CIR.0000100664.10777.B8.
180. Wald R, Veldtman G, Golding F, Kirsh J, McCrindle B, Benson L. Determinants of outcome in isolated ventricular noncompaction in childhood. Am J Cardiol. 2004;94:1581–1584. doi: 10.1016/j.amjcard.2004.08.047.
181. Ichida F, Hamamichi Y, Miyawaki T, Ono Y, Kamiya T, Akagi T, Hamada H, Hirose O, Isobe T, Yamada K, Kurotobi S, Mito H, Miyake T, Murakami Y, Nishi T, Shinohara M, Seguchi M, Tashiro S, Tomimatsu H. Clinical features of isolated noncompaction of the ventricular myocardium: long-term clinical course, hemodynamic properties, and genetic background. J Am Coll Cardiol. 1999;34:233–240.
182. Jefferies JL, Wilkinson JD, Sleeper LA, et al. Cardiomyopathy phenotypes and outcomes for children with left ventricular myocardial noncompaction: results from the pediatric cardiomyopathy registry. J Card Fail. 2015;21(11): 877–84.
183. Miszalski-Jamka K, Jefferies JL, Mazur W, Głowacki J, Hu J, Lazar M, et al. Novel genetic triggers and genotype-phenotype correlations in patients with left ventricular noncompaction. Circ Cardiovasc Genet. (2017) 10(4):e001763. doi: 10. 1161/CIRCGENETICS.117.001763
184. Akhtar T, Bandyopadhyay D, Ghosh RK, Mondal S. Left ventricular noncompaction cardiomyopathy: recent update on genetics, usefulness of biomarker, and speckle imaging. J Cardiol. (2019) 73(1):94–5. doi: 10.1016/j.jjcc. 2018.05.016
185. Alawani SS, Paul A, Krishna MR, Ahamed H. Familial left ventricular noncompaction cardiomyopathy due to a novel mutation in the MYH 7 gene. Ann Pediatr Cardiol. (2021) 14(4):544 –6. doi: 10.4103/apc.APC_92_20
186. Parent JJ, Towbin JA, Jefferies JL. Left ventricular noncompaction in a family with lamin A/C gene mutation. Tex Heart Inst J. (2015) 42(1):73–6. doi: 10.14503/ THIJ-13-3843
187. Wang J, Guo Y, Huang M, Zhang Z, Zhu J, Liu T, et al. Identification of TAZ mutations in pediatric patients with cardiomyopathy by targeted next-generation sequencing in a Chinese cohort. Orphanet J Rare Dis. (2017) 12(1):26. doi: 10.1186/ s13023-016-0562-4
188. Wang C, Hata Y, Hirono K, Takasaki A, Ozawa SW, Nakaoka H, et al. A wide and specific spectrum of genetic variants and genotype-phenotype correlations revealed by next-generation sequencing in patients with left ventricular noncompaction. J Am Heart Assoc. (2017) 6(9):e00 6210. doi: 10.1161/JAHA.117. 006210
189. Miyao N, Hata Y, Izumi H, Nagaoka R, Oku Y, Takasaki I, et al. TBX5 R264k acts as a modifier to develop dilated cardiomyopathy in mice independently of T-box pathway. PLoS One. (2020) 15(4):e0227393. doi: 10.1371/journal.pone.0227393
190. Samudrala SSK, North LM, Stamm KD, Earing MG, Frommelt MA, Willes R, et al. Novel KLHL26 variant associated with a familial case of Ebstein’s anomaly and left ventricular noncompaction. Mol Genet Genomic Med. (2020) 8(4):e1152. doi: 10. 1002/mgg3.1152
191. Tariq M, Ware SM. Importance of genetic evaluation and testing in pediatric cardiomyopathy. World J Cardiol. (2014) 6(11):1156–65. doi: 10.433 0/wjc.v6.i11.1156
192. Wang D, Tai PWL, Gao G. Adeno-associated virus vector as a platform for gene therapy delivery. Nat Rev Drug Discov. (2019) 18(5):358–78. doi: 10.1038/ s41573-019-0012-9
193. Maule G, Arosio D, Cereseto A. Gene therapy for cystic fibrosis: progress and challenges of genome editing. Int J Mol Sci. (2020) 21(11):3903. doi: 10.3390/ijms21113903
194. Ylä-Herttuala S, Baker AH. Cardiovascular gene therapy: past, present, and future. Mol Ther. (2017) 25(5):1095–106. doi: 10.1016/j.ymthe.2017 .03.027
2. Lipshultz SE, Cochran TR, Briston DA, et al. Pediatric cardiomyopathies: causes, epidemiology, clinical course, preventive strategies and therapies. Futur Cardiol. 2013;9(6):817–48.
3. Jenni R, Oechslin EN, van der Loo B. Isolated ventricular non-compaction of the myocardium in adults. Heart. 2007;93(1):11–5.
4. Stöllberger C, Winkler-Dworak M, Blazek G, Finsterer J. Prognosis of left ventricular hypertrabeculation/noncompaction is dependent on cardiac and neuromuscular comorbidity. Int J Cardiol. 2007;121(2):189–93.
5. Stöllberger C, Finsterer J. Survival in young patients with noncompaction may not only depend on cardiac but also on neuromuscular comorbidity. Circ J. 2017;81(8):1238.
6. Finsterer J, Stollberger C (1998) Hypertrabeculated left ventricle in mitochondriopathy. Heart (British Cardiac Society) 80(6):632
7. Jenni R, Oechslin E, Schneider J, Attenhofer Jost C, Kaufmann PA (2001) Echocardiographic and pathoanatomical characteristics of isolated left ventricular non-compaction: a step towards classification as a distinct cardiomyopathy. Heart 86(6):666–71
8. Miller EM, Hinton RB, Czosek R, Lorts A, Parrott A, Shikany AR et al (2017) Genetic testing in pediatric left ventricular noncompaction. Circ Cardiovasc Genet 10(6)
9. Wang C, Takasaki A, Watanabe Ozawa S, Nakaoka H, Okabe M, Miyao N et al (2017) Long-term prognosis of patients with left ventricular noncompaction- comparison between infantile and juvenile types. Circ J 81(5):694–700
10. Freedom RM, Yoo SJ, Perrin D, Taylor G, Petersen S, Anderson RH (2005) The morphological spectrum of ventricular noncompaction. Cardiol Young 15(4):345–64
11. Jenni R, Goebel N, Tartini R, Schneider J, Arbenz U, Oelz O (1986) Persisting myocardial sinusoids of both ventricles as an isolated anomaly: echocardiographic, angiographic, and pathologic anatomical findings. Cardiovasc Intervent Radiol 9(3):127–31
12. van Waning JI, Caliskan K, Hoedemaekers YM, van SpaendonckZwarts KY, Baas AF, Boekholdt SM et al (2018) Genetics, clinical features, and long-term outcome of noncompaction cardiomyopathy. J Am Coll Cardiol 71(7):711–22
13. Hoedemaekers YM, Cohen-Overbeek TE, Frohn-Mulder IM, Dooijes D, Majoor-Krakauer DF (2013) Prenatal ultrasound diagnosis of MYH7 non-compaction cardiomyopathy. Ultrasound Obstet Gynecol: the Official J Int Soc Ultrasound Obstet and Gynecol 41(3):336–9
14. Stollberger C, Wegner C, Benatar A, Chin TK, Dangel J, MajoorKrakauer D et al (2016) Postnatal outcome of fetal left ventricular hypertrabeculation /noncompaction. Pediatr Cardiol 37(5):919–24
15. Shi WY, Moreno-Betancur M, Nugent AW, Cheung M, Colan S, Turner C, et al. Long-term outcomes of childhood left ventricular noncompaction cardiomyopathy: results from a national population-based study. Circulation. (2018) 138(4):367–76. doi: 10.1161/CIRCULATION AHA.117.032262
16. Schultze-Berndt A, Kühnisch J, Herbst C, Seidel F, Al-Wakeel-Marquard N, Dartsch J, et al. Reduced systolic function and not genetic variants determine outcome in pediatric and adult left ventricular noncompaction cardiomyopathy.
17. Vaidya VR, Lyle M, Miranda WR, Farwati M, Isath A, Patlolla SH, et al. Long- term survival of patients with left ventricular noncompaction. J Am Heart Assoc. (2021) 10(2):e015563. doi: 10.1161/ JAHA.1 19.015563
18. Jefferies JL, Wilkinson JD, Sleeper LA, Colan SD, Lu M, Pahl E, et al. Cardiomyopathy phenotypes and outcomes for children with left ventricular myocardial noncompaction: results from the pediatric cardiomyopathy registry. J Card Fail. (2015) 21(11):877–84. doi: 10.1016/j.car dfail.2015.06.381
19. Jenni R, Oechslin E, Schneider J, Attenhofer Jost C, Kaufmann PA. Echocardiographic and pathoanatomical characteristics of isolated left ventricular non-compaction: a step towards classification as a distinct cardiomyopathy. Heart. (2001) 86(6):666–71. doi: 10.1136/heart.86.6.666
20. Chin TK, Perloff JK, Williams RG, Jue K, Mohrmann R. Isolated noncompaction of left ventricular myocardium. A study of eight cases. Circulation. (1990) 82 (2):507–13. doi: 10.1161/01. cir.82.2.507
21. Stollberger C, Finsterer J, Blazek G. Left ventricular hypertrabeculation/ noncompaction and association with additional cardiac abnormalities and neuromuscular disorders. Am J Cardiol. (2002) 90(8):899–902. doi: 10.1016/s0002- 9149(02)02723-6
22. Petersen SE, Jensen B, Aung N, Friedrich MG, McMahon CJ, Mohiddin SA, et al. Excessive trabeculation of the left ventricle: JACC: cardiovascular imaging expert panel paper. JACC Cardiovasc Imaging. (2023) 16(3):408–25. doi: 10.1016/j.jcmg. 2022.12. 026
23. Gerecke BJ, Engberding R. Noncompaction cardiomyopathy-history and current knowledge for clinical practice. J Clin Med. (2021) 10(11):2457. doi: 10.3390/ jcm10112457
24. Ichida F, Hamamichi Y, Miyawaki T, Ono Y, Kamiya T, Akagi T, et al. Clinical features of isolated noncompaction of the ventricular myocardium: long-term clinical course, hemodynamic properties, and genetic background. J Am Coll Cardiol. (1999) 34(1):233–40. doi: 10.1016/s0735-1097(99)00170-9
25. Koh C, Lee PW, Yung TC, Lun KS, Cheung YF. Left ventricular noncompaction in children. Congenit Heart Dis. (2009) 4(4):288–94. doi: 10.11 11/j.1747-0803.2009. 00269.x
26. Sabatino J, Di Salvo G, Krupickova S, Fraisse A, Prota C, Bucciarelli V, et al. Left ventricular twist mechanics to identify left ventricular noncompaction in childhood. Circ Cardiovasc Imaging. (2019) 12(4) :e007805. doi: 10.1161/CIRCIMAGING.118. 007805
27.Hotta VT, Tendolo SC, Rodrigues ACT, Fernandes F, Nastari L, Mady C. Limitations in the diagnosis of noncompaction cardiomyopathy by echocardiography. Arq Bras Cardiol. (2017) 109(5):48 3–8. doi: 10.5935/abc.20170152
28. Bekheit S, Karam B, Daneshvar F, Zaidan J, Tabet R, Spagnola J, et al. Sudden cardiac death in isolated right ventricular hypertrabeculation/ noncompaction cardiomyopathy. Ann Noninvasive Electrocardiol. (2018) 23(4):e12487. doi: 10.1111/ anec.12487
29. van Waning JI, Caliskan K, Hoedemaekers YM, van Spaendonck-Zwarts KY, Baas AF, Boekholdt SM, et al. Genetics, clinical features, and long-term outcome of noncompaction cardiomyopathy. J Am Coll Cardiol. (2018) 71(7):711–22. doi: 10. 1016/j. jacc.2017.12.019
30. Ojemolon PE, Evbayekha EO, Odion J, Bello J, Shaka H. Left ventricular noncompaction as a rare cause of syncope. Cureus. (2021) 13(11):e19409. doi: 10. 7759/cureus.19409
31. Stöllberger C, Finsterer J. The relationship between takotsubo syndrome, left ventricular hypertrabeculation/noncompaction, neurologic and neuromuscular disorders. Rev Cardiovasc Med. (2021) 22(4):1413–20. doi: 10.31083/j.rcm2204146
32. Stöllberger C, Finsterer J. Understanding left ventricular hypertrabeculation/ noncompaction: pathomorphologic findings and prognostic impact of neuromuscular comorbidities. Expert Rev Cardiovasc Ther. (2019) 17(2):95–109. doi: 10.1080/14779072.2019.1561280
33. Towbin JA, Jefferies JL. Cardiomyopathies due to left ventricular noncompaction, mitochondrial and storage diseases, and inborn errors of metabolism. Circ Res. (2017) 121(7):838–54. doi: 10.1161/CIRCRESAHA.117.310987
34. Finsterer J. Left ventricular non-compaction and its cardiac and neurologic implications. Heart Fail Rev. (2010) 15(6):589–603. doi: 10.1007/s107 41-010-9175-5
35. Udeoji DU, Philip KJ, Morrissey RP, Phan A, Schwarz ER. Left ventricular noncompaction cardiomyopathy: updated review. Ther Adv Cardiovasc Dis. (2013) 7(5):260–73. doi: 10.1177 /1753944713504639
36. Zuccarino F, Vollmer I, Sanchez G, Navallas M, Pugliese F, Gayete A. Left ventricular noncompaction: imaging findings and diagnostic criteria. AJR Am J Roentgenol. (2015) 204(5):W 519–30. doi: 10.2214/AJR.13.12326
37. Son g ZZ. The treatment of noncompaction of ventricular myocardium. Cardiovasc Ther. (2011) 29(5):315–21. doi: 10.1111/j.1755-5922.2010.00174.x
38.Takamatsu M, Kamohara K, Sato M, Koga Y. Effect of noncompacted myocardial resection on isolated left ventricular noncompaction. Ann Thorac Surg. (2020) 110(5):e387–9. doi: 10.1016/ j.athoracsur.2020.03.071
39. Bellet S, Gouley BA (1932) Congenital heart disease with multiple cardiac anomalies. Am J Med Sci 183(4):458–64
40. Soliman OI, McGhie J, ten Cate FJ, Paelinck BP, Caliskan K (2019) Multimodality imaging, diagnostic challenges and proposed diagnostic algorithm for noncompaction cardiomyopathy. In: Caliskan K, Soliman OI, ten Cate FJ (eds) Noncompaction Cardiomyopathy. Springer International Publishing, Cham, pp 17–40
41. Børresen, M.F.; Blixenkrone-Møller, E.; Kock, T.O.; Sillesen, A.-S.; Vøgg, R.O.B.; Pihl, C.A.; Norsk, J.B.; Vejlstrup, N.G.; Christensen, A.H.; Iversen, K.K.; et al. Prevalence of Left Ventricular Noncompaction in Newborns. Circ. Cardiovasc. Imaging 2022, 15, e014159. [CrossRef] [PubMed
42. Tian, L.; Zhou, Q.; Zhou, J.; Zeng, S.; Cao, D.; Zhang, M. Ventricular Non-Compaction Cardiomyopathy: Prenatal Diagnosis and Pathology. Prenat. Diagn. 2015, 35, 221–227. [CrossRef] [PubMed]
43. Jenni, R.; Oechslin, E.; Schneider, J.; Attenhofer Jost, C.; Kaufmann, P.A. Echocardiographic and Pathoanatomical Characteristics of Isolated Left Ventricular Non-Compaction: A Step towards Classification as a Distinct Cardiomyopathy. Heart 2001, 86, 666–671. [CrossRef] [PubMed]
44. Stöllberger, C.; Finsterer, J.; Blazek, G. Left Ventricular Hypertrabeculation/Noncompaction and Association with Additional Cardiac Abnormalities and Neuromuscular Disorders. Am. J. Cardiol. 2002, 90, 899–902. [CrossRef] [PubMed]
45. Pignatelli, R.H.; McMahon, C.J.; Dreyer, W.J.; Denfield, S.W.; Price, J.; Belmont, J.W.; Craigen, W.J.; Wu, J.; El Said, H.; Bezold, L.I.; et al. Clinical Characterization of Left Ventricular Noncompaction in Children: A Relatively Common Form of Cardiomyopathy. Circulation 2003, 108, 2672–2678. [CrossRef]
46. Aras, D.; Tufekcioglu, O.; Ergun, K.; Ozeke, O.; Yildiz, A.; Topaloglu, S.; Deveci, B.; Sahin, O.; Kisacik, H.L.; Korkmaz, S. Clinical Features of Isolated Ventricular Noncompaction in Adults Long-Term Clinical Course, Echocardiographic Properties, and Predictors of Left Ventricular Failure. J. Card. Fail. 2006, 12, 726–733. [CrossRef]
47. Stanton, C.; Bruce, C.; Connolly, H.; Brady, P.; Syed, I.; Hodge, D.; Asirvatham, S.; Friedman, P. Isolated Left Ventricular Noncompaction Syndrome. Am. J. Cardiol. 2009, 104, 1135–1138. [CrossRef]
48. Oechslin, E.N.; Attenhofer Jost, C.H.; Rojas, J.R.; Kaufmann, P.A.; Jenni, R. Long-Term Follow-up of 34 Adults with Isolated Left Ventricular Noncompaction: A Distinct Cardiomyopathy with Poor Prognosis. J. Am. Coll. Cardiol. 2000, 36, 493–500. [CrossRef]
49. Rath, A.; Weintraub, R. Overview of Cardiomyopathies in Childhood. Front. Pediatr. 2021, 9, 708732. [CrossRef] [PubMed]
50. Daubeney, P.E.F.; Nugent, A.W.; Chondros, P.; Carlin, J.B.; Colan, S.D.; Cheung, M.; Davis, A.M.; Chow, C.W.; Weintraub, R.G. Clinical Features and Outcomes of Childhood Dilated Cardiomyopathy: Results from a National Population-Based Study. Circulation 2006, 114, 2671–2678. [CrossRef] [PubMed]
51. Lee TM, Hsu DT, Kantor P, Towbin JA, Ware SM, Colan SD et al (2017) Pediatric cardiomyopathies. Circ Res 121(7):855–73
52. Shi WY, Moreno-Betancur M, Nugent AW, Cheung M, Colan S, Turner C et al (2018) Long-term outcomes of childhood left ventricular noncompaction cardiomyopathy: results from a national population-based study. Circulation 138(4):367–76
53. Jeferies JL, Wilkinson JD, Sleeper LA, Colan SD, Lu M, Pahl E et al (2015) Cardiomyopathy phenotypes and outcomes for children with left ventricular myocardial noncompaction: results from the pediatric cardiomyopathy registry. J Card Fail 21(11):877–84
54. Jefferies, J.L.; Wilkinson, J.D.; Sleeper, L.A.; Colan, S.D.; Lu, M.; Pahl, E.; Kantor, P.F.; Everitt, M.D.; Webber, S.A.; Kaufman, B.D.; et al. Cardiomyopathy Phenotypes and Outcomes for Children with Left Ventricular Myocardial Noncompaction: Results from the Pediatric Cardiomyopathy Registry. J. Card. Fail. 2015, 21, 877–884. [CrossRef]
55. Liu Y, Chen H, Shou W (2018) Potential Common pathogenic pathways for the left ventricular noncompaction cardiomyopathy (LVNC). Pediatr Cardiol
56. Chin TK, Perlof JK, Williams RG, Jue K, Mohrmann R (1990) Isolated noncompaction of left ventricular myocardium. A study of eight cases. Circulation 82(2):507–13
57. Luxán, G.; Casanova, J.C.; Martínez-Poveda, B.; Prados, B.; D’Amato, G.; MacGrogan, D.; Gonzalez-Rajal, A.; Dobarro, D.; Torroja, C.; Martinez, F.; et al. Mutations in the NOTCH Pathway Regulator MIB1 Cause Left Ventricular Noncompaction Cardiomyopathy. Nat. Med. 2013, 19, 193–201. [CrossRef] [PubMed]
58. Choquet, C.; Nguyen, T.H.M.; Sicard, P.; Buttigieg, E.; Tran, T.T.; Kober, F.; Varlet, I.; Sturny, R.; Costa, M.W.; Harvey, R.P.; et al. Deletion of Nkx2-5 in Trabecular Myocardium Reveals the Developmental Origins of Pathological Heterogeneity Associated with Ventricular Non-Compaction Cardiomyopathy. PLoS Genet. 2018, 14, e1007502. [CrossRef]
59. Chin, T.K.; Perloff, J.K.; Williams, R.G.; Jue, K.; Mohrmann, R. Isolated Noncompaction of Left Ventricular Myocardium. A Study of Eight Cases. Circulation 1990, 82, 507–513. [CrossRef] [PubMed]
60. Hussein, A.; Karimianpour, A.; Collier, P.; Krasuski, R.A. Isolated Noncompaction of the Left Ventricle in Adults. J. Am. Coll. Cardiol. 2015, 66, 578–585. [CrossRef]
61. El-Menyar AA, Gendi SM, Numan MT (2007) Noncompaction cardiomyopathy in the State of Qatar. Saudi Med J 28(3):429–34
62. Handlos P, Gruszka T, Stankova M, Marecova K, Joukal M (2017) Biventricular noncompaction cardiomyopathy with malignant arrhythmia as a cause of sudden death. Forensic Sci Med Pathol 13(4):495–9
63. Cohen PJ, Prahlow JA (2015) Sudden death due to biventricular non-compaction cardiomyopathy in a 14-year-old. Forensic Sci Med Pathol 11(1):92–8 64. Sirin BH, Kurdal AT, Iskesen I, Cerrahoglu M (2010) Right ventricular outfow obstruction of the patient with biventricular noncompaction. Thorac Cardiovasc Surg 58(6):364–6
64. Tomar M, Radhakrishnan S (2009) Biventricular noncompaction: a rare cause of fetal distress and tricuspid regurgitation. Images Paediatr Cardiol 11(4):1–5
65. Grattan MJ, Bufo-Sequeira I, Fortier M, Pepelassis D (2009) Biventricular noncompaction in a patient with dextrocardia/dextroversion diagnosed with cardiac magnetic resonance imaging. Can J Cardiol 25(9):e335-6
66. Roberts AE, Nixon C, Steward CG, Gauvreau K, Maisenbacher M, Fletcher M et al (2012) The Barth Syndrome Registry: distinguishing disease characteristics and growth data from a longitudinal study. Am J Med Genet A 158A(11):2726–32
67. Tigen K, Karaahmet T, Gurel E, Cevik C, Basaran Y (2008) Biventricular noncompaction: a case report. Echocardiography 25(9):993–6
68. Brescia ST, Rossano JW, Pignatelli R, Jeferies JL, Price JF, Decker JA et al (2013) Mortality and sudden death in pediatric left ventricular noncompaction in a tertiary referral center. Circulation 127(22):2202–8
69. Wald R, Veldtman G, Golding F, Kirsh J, McCrindle B, Benson L (2004) Determinants of outcome in isolated ventricular noncompaction in childhood. Am J Cardiol 94(12):1581–4
70. Ozkutlu S, Ayabakan C, Celiker A, Elshershari H (2002) Noncompaction of ventricular myocardium: a study of twelve patients. J Am Soc Echocardiogr 15(12):1523–8
71. El-Menyar AA, Gendi SM, Numan MT (2007) Noncompaction cardiomyopathy in the State of Qatar. Saudi Med J 28(3):429–34
72. Ozgur S, Senocak F, Orun UA, Ocal B, Karademir S, Dogan V et al (2011) Ventricular non-compaction in children: clinical characteristics and course. Interact Cardiovasc Thorac Surg 12(3):370–3
73. Tian T, Yang Y, Zhou L, Luo F, Li Y, Fan P et al (2018) Left ventricular non-compaction: a cardiomyopathy with acceptable prognosis in children. Heart Lung Circ 27(1):28–32
74. Zuckerman WA, Richmond ME, Singh RK, Carroll SJ, Starc TJ, Addonizio LJ (2011) Left-ventricular noncompaction in a pediatric population: predictors of survival. Pediatr Cardiol 32(4):406–12
75. Ergul Y, Nisli K, Demirel A, Varkal MA, Oner N, Dursun M et al (2011) Left ventricular non-compaction in children and adolescents: clinical features, treatment and follow-up. Cardiol J18(2):176–84
76. Koh C, Lee PW, Yung TC, Lun KS, Cheung YF (2009) Left ventricular noncompaction in children. Congenit Heart Dis 4(4):288–94
77. Tsai SF, Ebenroth ES, Hurwitz RA, Cordes TM, Schamberger MS, Batra AS (2009) Is left ventricular noncompaction in children truly an isolated lesion? Pediatr Cardiol 30(5):597–602
78. Fazio G, Pipitone S, Iacona MA, Marchi S, Mongiovi M, Zito R et al (2007) The noncompaction of the left ventricular myocardium: our paediatric experience. J Cardiovasc Med (Hagerstown) 8(11):904–8
79. Lilje C, Razek V, Joyce JJ, Rau T, Finckh BF, Weiss F et al (2006) Complications of non-compaction of the left ventricular myocardium in a paediatric population: a prospective study. Eur Heart J 27(15):1855–60
80. Finsterer J, Stollberger C, Fazio G (2010) Neuromuscular disorders in left ventricular hypertrabeculation/noncompaction. Curr Pharm Des 16(26):2895–904
81. Stollberger C, Finsterer J, Blazek G, Bittner RE (1996) Left ventricular non-compaction in a patient with Becker’s muscular dystrophy. Heart (British Cardiac Society) 76(4):380
82. Statile CJ, Taylor MD, Mazur W, Cripe LH, King E, Pratt J et al (2013) Left ventricular noncompaction in Duchenne muscular dystrophy. J Cardiovasc Magn Reson 15:67
83. Kimura K, Takenaka K, Ebihara A, Uno K, Morita H, Nakajima T et al (2013) Prognostic impact of left ventricular noncompaction in patients with Duchenne/Becker muscular dystrophy–prospective multicenter cohort study. Int J Cardiol 168(3):1900–4
84. Arunamata A, Punn R, Cuneo B, Bharati S, Silverman NH (2012) Echocardiographic diagnosis and prognosis of fetal left ventricular noncompaction. J Am Soc Echocardiogr: Ofcial Publication of the Am Soc Echocardiogr 25(1):112–20
85. Ozkutlu S, Bostan O, Karagoz T, Deren O, Tekinalp G (2007) Prenatal diagnosis of isolated non-compaction of the ventricular myocardium: study of six cases. Pediatr Int: Ofcial J Japan Pediatr Soc 49(2):172–6
86. Tian L, Zhou Q, Zhou J, Zeng S, Cao D, Zhang M (2015) Ventricular non-compaction cardiomyopathy: prenatal diagnosis and pathology. Prenatal Diagn 35(3):221–7
87. Weber R, Kantor P, Chitayat D, Friedberg MK, Golding F, Mertens L et al (2014) Spectrum and outcome of primary cardiomyopathies diagnosed during fetal life. JACC Heart Fail 2(4):403–11
88. Stollberger C, Wegner C, Finsterer J (2015) Fetal Ventricular Hypertrabeculation/noncompaction: clinical presentation, genetics, associated cardiac and extracardiac abnormalities and outcome. Pediatr Cardiol 36(7):1319–26
89. Gardiner HM (2018) Advances in fetal echocardiography. Semin Fetal Neonatal Med 23(2):112–8
90. Arbustini E, Favalli V, Narula N, Serio A, Grasso M (2016) Left ventricular noncompaction: a distinct genetic cardiomyopathy? J Am Coll Cardiol 68(9):949–66
91. Finsterer J (2009) Cardiogenetics, neurogenetics, and pathogenetics of left ventricular hypertrabeculation/noncompaction. Pediatr Cardiol 30(5):659–81
92. Finsterer J, Stollberger C, Towbin JA (2017) Left ventricular noncompaction cardiomyopathy: cardiac, neuromuscular, and genetic factors. Nat Rev Cardiol 14(4):224–37
93. Dong X, Fan P, Tian T, Yang Y, Xiao Y, Yang K et al (2017) Recent advancements in the molecular genetics of left ventricular noncompaction cardiomyopathy. Clin Chim Acta; Int J Clin Chem 465:40–4
94. van Waning JI, Caliskan K, Michels M, Schinkel AFL, Hirsch A, Dalinghaus M et al (2019) Cardiac phenotypes, genetics, and risks in familial noncompaction cardiomyopathy. J Am Coll Cardiol 73(13):1601–11
95. Udeoji DU, Philip KJ, Morrissey RP, Phan A, Schwarz ER (2013) Left ventricular noncompaction cardiomyopathy: updated review. Ther Adv Cardiovasc Dis 7(5):260–73
96. Klaassen S, Probst S, Oechslin E, Gerull B, Krings G, Schuler P et al (2008) Mutations in sarcomere protein genes in left ventricular noncompaction. Circulation 117(22):2893–901
97. Dellefave LM, Pytel P, Mewborn S, Mora B, Guris DL, Fedson S et al (2009) Sarcomere mutations in cardiomyopathy with left ventricular hypertrabeculation. Circ Cardiovasc Genet 2(5):442–9
98. Towbin JA, Bowles NE (2002) The failing heart. Nature 415(6868):227–33
99. Towbin JA, Jeferies JL (2017) Cardiomyopathies due to left ventricular noncompaction, mitochondrial and storage diseases, and inborn errors of metabolism. Circ Res 121(7):838–54
100. van Waning JI, Moesker J, Heijsman D, Boersma E, MajoorKrakauer D (2019) Systematic review of genotype-phenotype correlations in noncompaction cardiomyopathy. J Am Heart Assoc 8(23):e012
101. Stollberger C, Finsterer J, Blazek G (2002) Left ventricular hypertrabeculation/noncompaction and association with additional cardiac abnormalities and neuromuscular disorders. Am J Cardiol 90(8):899–902
102. Oechslin EN, Attenhofer Jost CH, Rojas JR, Kaufmann PA, Jenni R (2000) Long-term follow-up of 34 adults with isolated left ventricular noncompaction: a distinct cardiomyopathy with poor prognosis. J Am Coll Cardiol 36(2):493–500
103. Kohli SK, Pantazis AA, Shah JS, Adeyemi B, Jackson G, McKenna WJ et al (2008) Diagnosis of left-ventricular non-compaction in patients with left-ventricular systolic dysfunction: time for a reappraisal of diagnostic criteria? Eur Heart J 29(1):89–95
104. Petersen SE, Selvanayagam JB, Wiesmann F, Robson MD, Francis JM, anderson RH et al (2005) Left ventricular non-compaction: insights from cardiovascular magnetic resonance imaging. J Am Coll Cardiol 46(1):101–5
105. Jacquier A, Thuny F, Jop B, Giorgi R, Cohen F, Gaubert JY et al (2010) Measurement of trabeculated left ventricular mass using cardiac magnetic resonance imaging in the diagnosis of left ventricular non-compaction. Eur Heart J 31(9):1098–104
106. Yubbu P, Nawaytou HM, Calderon-Anyosa R, Banerjee A (2018) Diagnostic value of myocardial deformation pattern in children with noncompaction cardiomyopathy. Int J Cardiovasc Imaging
107. Parent JJ, Towbin JA, Jeferies JL (2016) Medical therapy leads to favorable remodeling in left ventricular non-compaction cardiomyopathy: dilated phenotype. Pediatr Cardiol 37(4):674–7
108. Masarone D, Valente F, Rubino M, Vastarella R, Gravino R, Rea A, et al. Pediatric heart failure: a practical guide to diagnosis and management. Pediatr Neonatol. (2017) 58(4):303–12. doi: 10.1016/j.pedneo.2017.01.001
109. Toyono M, Kondo C, Nakajima Y, Nakazawa M, Momma K, Kusakabe K. Effects of carvedilol on left ventricular function, mass, and scintigraphic findings in isolated left ventricular non-compaction. Heart. (2001) 86(1):E4. doi: 10.1136/heart. 86.1.e4
110. Parent JJ, Towbin JA, Jefferies JL. Medical therapy leads to favorable remodeling in left ventricular non-compaction cardiomyopathy: dilated phenotype. Pediatr Cardiol. (2016) 37(4):674–7. doi: 10.1007/s00246-015-1330-2
111. Yancy CW, Jessup M, Bozkurt B, Butler J, Casey DE Jr, Colvin MM, et al. 2017 ACC/AHA/HFSA focused update of the 2013 ACCF/AHA guideline for the management of heart failure: a report of the American college of cardiology/ American heart association task force on clinical practice guidelines and the heart failure society of America. Circulation. (2017) 136(6):e 137–61. doi: 10.1161/CIR. 0000000000000509
112. 杜朝阳 高路, 崔烺 等. 伊伐布雷定治疗儿童心力衰竭的研究现状[ J]. 中国临 床药理学杂志. (2020) 36(15):2373–6. doi: 10.13699/j.cnki.1001-6821.20 20.15.060
113. Bocchi EA, Salemi VMC. Ivabradine for treatment of heart failure. Expert Opin Drug Saf. (2019) 18(5):393–402. doi: 10.1080/14740338. 2019.1612873
114. Swedberg K, Komajda M, Böhm M, Borer JS, Ford I, Dubost-Brama A, et al. Ivabradine and outcomes in chronic heart failure (SHIFT): a randomised placebocontrolled study. Lancet. (2010) 376(9744):875–85; Erratum in: Lancet. (2010);376 (9757):1988. Lajnscak, M [corrected to Lainscak, M]; Rabanedo, I Roldan [corrected to Rabadán, I Roldan]; Leva, M [corrected to Ieva, M]. doi: 10.1016/S0140-6736(10) 61198-1
115. Lechat P, Hulot JS, Escolano S, Mallet A, Leizorovicz A, Werhlen-Grandjean M, et al. Heart rate and cardiac rhythm relationships with bisoprolol benefit in chronic heart failure in CIBIS II trial. Circulation. (2001) 103(10):1428–33. doi: 10.1161/01. cir.103.10.1428
116. Klugman D, Goswami ES, Berger JT. Pediatric cardiac intensive care society 2014 consensus statement: pharmacotherapies in cardiac critical care antihypertensives. Pediatr Crit Care Med. (2016) 17(3 Suppl 1):S101–8. doi: 10. 1097/PCC. 0000000000000621
117. US FOOD AND DRUG ADMINISTRATION (FDA). Corlanor (ivabradine)[EB/ OL]. Washington, DC: FDA. (2019). Available at: https://www.accessdata.fda.gov/drugsatfda_docs/lable/2019/209964lbl .pdf (January 10, 2017).
118. Bonnet D, Berger F, Jokinen E, Kantor PF, Daubeney PEF. Ivabradine in children with dilated cardiomyopathy and symptomatic chronic heart failure. J Am Coll Cardiol. (2017) 70(10):1262–72. doi: 10.1016/j.jacc.2017.07.725
119. Deedwania P. Selective and specific inhibition of if with ivabradine for the treatment of coronary artery disease or heart failure. Drugs. (2013) 73(14):1569–86. doi: 10.1007/s40265-013-0117-0
120. Badu-Boateng C, Jennings R, Hammersley D. The therapeutic role of ivabradine in heart failure. Ther Adv Chronic Dis. (2018) 9(11):199–207. doi: 10.1177/ 2040622318784556
121. Shaddy RE, Boucek MM, Hsu DT, Boucek RJ, Canter CE, Mahony L, et al. Carvedilol for children and adolescents with heart failure: a randomized controlled trial. JAMA. (2007) 298(10):1171–9. doi: 10.1001/jama.298.10.1171
122. Huang M, Zhang X, Chen S, Sun Y, Xiao Y, Sun J, et al. The effect of carvedilol treatment on chronic heart failure in pediatric patients with dilated cardiomyopathy: a prospective, randomized-controlled study. Pediatr Cardiol. (2013) 34(3):680–5. doi: 10.1007/s00246-012-0527-x
123. Recla S, Schmidt D, Logeswaran T, Esmaeili A, Schranz D. Pediatric heart failure therapy: why β1-receptor blocker, tissue ACE-I and mineralocorticoid-receptorblocker? Transl Pediatr. (2019) 8(2):127–32. doi: 10.21037/tp.2019.04.08
124. Channer KS, McLean KA, Lawson-Matthew P, Richardson M. Combination diuretic treatment in severe heart failure: a randomised controlled trial. Br Heart J. (1994) 71(2):146–50. doi: 10.1136/hrt. 71.2.146
125. Stöllberger C, Blazek G, Dobias C, Hanafin A, Wegner C, Finsterer J. Frequency of stroke and embolism in left ventricular hypertrabeculation /noncompaction. Am J Cardiol. (2011) 108(7):1 021–3. doi: 10.1016/j.amjcard.2011.05.039
126. Wu M. Mechanisms of trabecular formation and specification during cardiogenesis. Pediatr Cardiol. (2018) 39(6):1082–9. doi: 10.1007/s00246-018-1868-x
127. Law YM, Lal AK, Chen S, Čiháková D, Cooper LT Jr, Deshpande S, et al. Diagnosis and management of myocarditis in children: a scientific statement from the American heart association. Circulation. (2021) 144(6):e123–35. doi: 10.1161/ CIR.0000000000001001
128. Hashemi H, Raza FS, Harmon DM, Alias T, Felius J, Sherwood MJ. Usefulness of a left ventricular assist device in patients with left ventricular noncompaction. Proc (Bayl Univ Med Cent). (2018) 31(1):61–3. doi: 10.1080/08998280. 2017.1401342
129. Conraads V, Paelinck B, Vorlat A, Goethals M, Jacobs W, Vrints C. Isolated non-compaction of the left ventricle: a rare indication for transplantation. J Heart Lung Transplant. (2001) 20(8):904–7. doi: 10.1016/s1053-2498(01)00264-9
130. Strüber M, Meyer AL, Malehsa D, Kugler C, Simon AR, Haverich A. The current status of heart transplantation and the development of “artificial heart systems”. Dtsch Arztebl Int. (2009) 106(28-29):471–7. doi: 10.3238/arztebl.2009.0471
131. Zetina-Tun HJ, Careaga-Reyna G, Galván-Díaz J, Sánchez-Uribe M. Trasplante cardiaco: una opción para tratamiento del miocardio no compactado aislado de ventrículo izquierdo. Primer caso en México [Heart transplantation for the treatment of isolated left ventricular myocardial noncompaction. First case in Mexico]. Cir Cir. (2017) 85(6):539–43. doi: 10.1016/j.circir.2016.09.001
132. Brescia ST, Rossano JW, Pignatelli R, Jefferies JL, Price JF, Decker JA, et al. Mortality and sudden death in pediatric left ventricular noncompaction in a tertiary referral center. Circulation. (2013) 127(22) :2202–8. doi: 10.1161/ CIRCULATIONAHA.113.002511
133. Stöllberger C, Wegner C, Benatar A, Chin TK, Dangel J, Majoor-Krakauer D, et al. Postnatal outcome of fetal left ventricular hypertrabeculation /noncompaction. Pediatr Cardiol. (2016) 37(5):919 –24. doi: 10.1007/s00246-016-1369-8
134. Al-Kindi SG, El-Amm C, Ginwalla M, Hoit BD, Park SJ, Oliveira GH. Heart transplant outcomes in patients with left ventricular non-compaction cardiomyopathy. J Heart Lung Transplant. (2015) 34(6):761–5. doi: 10.1016/j. healun.2014.11.005
135. Lakdawala NK. Big data for a rare disease: examining heart transplantation for left ventricular noncompaction in the united network of organ sharing registry. J Heart Lung Transplant. (2015) 34(6):759–60. doi: 10.1016/j.healun.2015.03.019
136. Fazio G, Corrado G, Zachara E, Rapezzi C, Sulafa AK, Sutera L, et al. Ventricular tachycardia in non-compaction of left ventricle: is this a frequent complication? Pacing Clin Electrophysiol. (2007) 30(4):544–6. doi: 10.1111/j.1540-8159.2007.00706.x
137. Kida K, Yoneyama K, Kobayashi Y, Takano M, Akashi YJ, Miyake F. Late gadolinium enhancement on cardiac magnetic resonance images predicts reverse remodeling in patients with nonischemic cardiomyopathy treated with carvedilol. Int J Cardiol. (2013) 168(2):1588–9. doi: 10.1016/j.ijcard.2013.01.043
138. Haverkamp W, Martinez-Rubio A, Hief C, Lammers A, Mühlenkamp S, Wichter T, et al. Efficacy and safety of d,l-sotalol in patients with ventricular tachycardia and in survivors of cardiac arrest. J Am Coll Cardiol. (1997) 30(2):487–95. doi: 10.1016/ s0735-1097(97)00190-3
139. Valdés SO, Miyake CY, Niu MC, de la Uz CM, Asaki SY, Landstrom AP, et al. Early experience with intravenous sotalol in children with and without congenital heart disease. Heart Rhythm. (2018) 15(12):1862–9. doi: 10.1016/j.hrthm.2018. 07.010.
140. Cuculich PS, Schill MR, Kashani R, Mutic S, Lang A, Cooper D, et al. Noninvasive cardiac radiation for ablation of ventricular tachycardia. N Engl J Med. (2017) 377(24):2325–36. doi: 10.1056 /NEJMoa1613773
141. Li Q, Miao L, Xia L, Abdelnasser HY, Zhang F, Lu Y, et al. Left ventricular noncompaction is associated with valvular regurgitation and a variety of arrhythmias. J Cardiovasc Dev Dis. (2022) 9(2):49. doi: 10.3390/jcdd902004
142. Sohns C, Ouyang F, Volkmer M, Metzner A, Nürnberg JH, Ventura R, et al. Therapy of ventricular arrhythmias in patients suffering from isolated left ventricular non-compaction cardiomyopathy. Europace. (2019) 21(6):961–9. doi: 10. 1093/europace/euz016
143. Epstein AE, DiMarco JP, Ellenbogen KA, Estes NA 3rd, Freedman RA, Gettes LS, et al. ACC/AHA/HRS 2008 guidelines for device-based therapy of cardiac rhythm abnormalities: a report of the American college of cardiology/American heart association task force on practice guidelines (writing committee to revise the ACC/AHA/NASPE 2002 guideline update for implantation of cardiac pacemakers and antiarrhythmia devices) developed in collaboration with the American association for thoracic surgery and society of thoracic surgeons. J Am Coll Cardiol. (2008) 51(21):e1–62. doi: 10.1016/j.jacc.2008.02.032
144. Sato Y, Matsumoto N, Takahashi H, Imai S, Yoda S, Kasamaki Y, et al. Cardioverter defibrillator implantation in an adult with isolated noncompaction of the ventricular myocardium. Int J Cardiol. (2006) 110(3):417–9. doi: 10.1016/j. ijcard.2005.08.056
145. Grupa Robocza Europejskiego Towarzystwa Kardiologicznego (ESC) do spraw rozpoznawania i postepowania w kardiomiopatii przerostowej, Elliott PM, Anastasakis A, Borger MA, Borggrefe M, Cecchi F, Charron P, et al. Wytyczne ESC dotyczące rozpoznawania i postępowania w kardiomiopatii przerostowej w 2014 roku [2014 ESC guidelines on diagnosis and management of hypertrophic cardiomyopathy]. Kardiol Pol. (2014) 72(11):1054–126. doi: 10.5603/KP.2014.0212
146. Petersen SE, Selvanayagam JB, Wiesmann F, Robson MD, Francis JM, Anderson RH, et al. Left ventricular non-compaction: insights from cardiovascular magnetic resonance imaging. J Am Coll Cardiol. (2005) 46(1):101–5. doi: 10.1016/j.jacc .2005.03.045
147. Caliskan K, Szili-Torok T, Theuns DA, Kardos A, Geleijnse ML, Balk AH, et al. Indications and outcome of implantable cardioverter-defibrillators for primary and secondary prophylaxis in patients with noncompaction cardiomyopathy. J Cardiovasc Electrophysiol. (2011) 22(8):898–904. doi: 10.1111 /j.1540-8167.2011.02015.x
148. Cetin MS, Ozcan Cetin EH, Canpolat U, Cay S, Topaloglu S, Temizhan A, et al. Usefulness of fragmented QRS complex to predict arrhythmic events and cardiovascular mortality in patients with noncompaction cardiomyopathy. Am J Cardiol. (2016) 117(9):1516–23. doi: 10.1016/j.amjcard. 2016.02.022
149. Derval N, Jais P, O’Neill MD, Haissaguerre M. Apparent idiopathic ventricular tachycardia associated with isolated ventricular noncompaction. Heart Rhythm. (2009) 6(3):385–8. doi: 10.1016/j. hrthm.2008.11.020
150. Grigoratos C, Barison A, Ivanov A, Andreini D, Amzulescu MS, Mazurkiewicz L, et al. Meta-analysis of the prognostic role of late gadolinium enhancement and global systolic impairment in left ventricular noncompaction. JACC Cardiovasc Imaging. (2019) 12(11 Pt 1):2141–51. doi: 10.1016 /j.jcmg.2018.12.029
151. Jenni R, Oechslin EN, van der Loo B. Isolated ventricular non-compaction of the myocardium in adults. Heart. (2007) 93(1):11–5. doi: 10.1136/hrt. 2005.082271
152. Muser D, Nucifora G, Gianfagna E, Pavoni D, Rebellato L, Facchin D, et al.. Clinical spectrum of isolated left ventricular noncompaction: thromboembolic events, malignant left ventricular arrhythmias, and refractory heart failure. J Am Coll Cardiol. (2014) 63(16):e39. doi: 10.1016/j.jacc. 2013.11.063
153. Ritter M, Oechslin E, Sütsch G, Attenhofer C, Schneider J, Jenni R. Isolated noncompaction of the myocardium in adults. Mayo Clin Proc. (1997) 72(1):26–31. doi: 10.4065/72.1.26
154. Homma S, Thompson JL, Pullicino PM, Levin B, Freudenberger RS, Teerlink JR, et al. Warfarin and aspirin in patients with heart failure and sinus rhythm. N Engl J Med. (2012) 366(20):1859–69. doi: 10.1056/NEJMoa1202299
155. Rengo G, Pagano G, Squizzato A, Moja L, Femminella GD, de Lucia C, et al. Oral anticoagulation therapy in heart failure patients in sinus rhythm: a systematic review and meta-analysis. PLoS One. (2013) 8(1):e52952. doi: 10.1371/journal.pone. 0052952
156. Bocchi EA, Marcondes-Braga FG, Bacal F, Ferraz AS, Albuquerque D, Rodrigues Dde A, et al. Sociedade Brasileira de Cardiologia. III Diretriz brasileira de insuficiência cardíaca crnica. Arq Bras Cardiol. (2009) 93(1):1–71. doi: 10.1590/S0066- 782X2012001000001
157. Murphy RT, Thaman R, Blanes JG, Ward D, Sevdalis E, Papra E, et al. Natural history and familial characteristics of isolated left ventricular non-compaction. Eur Heart J. (2005) 26(2):187–92. doi: 10.1093/eurheartj/ehi025
158. Weiford BC, Subbarao VD, Mulhern KM. Noncompaction of the ventricular myocardium. Circulation. (2004) 109(24):2965–71. doi: 10.1161/01.CIR.0000132478. 60674.D0
159. Levine MN, Raskob G, Beyth RJ, Kearon C, Schulman S. Hemorrhagic complications of anticoagulant treatment: the seventh ACCP conference on antithrombotic and thrombolytic therapy. Chest. (2004) 126(3 Suppl):287S–310S. doi: 10.1378/chest.126.3_suppl.287S
160. Ng HJ, Crowther MA. New anti-thrombotic agents: emphasis on hemorrhagic complications and their management. Semin Hematol. (2006) 43(1 Suppl 1):S77–83. doi: 10.1053/j.seminhematol .2005.11.023
161. Crowther MA, Warkentin TE. Bleeding risk and the management of bleeding complications in patients undergoing anticoagulant therapy: focus on new anticoagulant agents. Blood. (2008) 111 (10):4871–9. doi: 10.1182/blood-2007-10- 120543
162. Turpie AG, Bauer KA, Eriksson BI, Lassen MR. Fondaparinux vs enoxaparin for the prevention of venous thromboembolism in major orthopedic surgery: a metaanalysis of 4 randomized double-blind studies. Arch Intern Med. (2002) 162 (16):1833–40. doi: 10.1001/archinte.162.16.1833
163. Dreijer AR, Diepstraten J, Brouwer R, Croles FN, Kragten E, Leebeek FWG, et al. Risk of bleeding in hospitalized patients on anticoagulant therapy: prevalence and potential risk factors. Eur J Intern Med. (2019) 62:17–23. doi: 10.1016/j.ejim. 2019.01.008
164. Gan C, Hu J, Luo S, An Q, Lin K. Surgical restoration of left ventricular diastolic function: possible treatment for noncompaction cardiomyopathy. J Card Surg. (2014) 29(6):827–8. doi: 10.1111/jocs.12339
165. Agmon Y, Connolly HM, Olson LJ, Khandheria BK, Seward JB. Noncompaction of the ventricular myocardium. J Am Soc Echocardiogr. (1999) 12 (10):859–63. doi: 10.1016/s0894-7317(99)70192-6
166. Stöllberger C, Finsterer J. Is surgical removal of the noncompacted layer the clue to treat left ventricular hypertrabeculation/noncompaction? J Card Surg. (2014) 29(6):837–8. doi: 10.1111/ jocs.12438
167. Finsterer J, Stöllberger C, Towbin JA. Left ventricular noncompaction cardiomyopathy: cardiac, neuromuscular, and genetic factors. Nat Rev Cardiol. (2017) 14(4):224–37. doi: 10.1038/nrcardi o.2016.207
168. Cao F, Yang Z, Yin L. A fetal mouse model of ventricular non-compaction using retinoic acid. Pathol Res Pract. (2019) 215(8):152496. doi: 10.10 16/j.prp.2019. 152496
169. Strong A, Musunuru K. Genome editing in cardiovascular diseases. Nat Rev Cardiol. (2017) 14(1):11–20. doi: 10.1038/nrcardio.2016.139
170. Zou J, Tran D, Baalbaki M, Tang LF, Poon A, Pelonero A, et al. An internal promoter underlies the difference in disease severity between N- and C-terminal truncation mutations of Titin in zebrafish. Elife. (2015) 4:e09406. doi: 10.7554/ eLife. 09406
171. Jaffré F, Miller CL, Schänzer A, Evans T, Roberts AE, Hahn A, et al. Inducible pluripotent stem cell-derived cardiomyocytes reveal aberrant extracellular regulated kinase 5 and mitogen-activated protein kinase kinase 1/2 signaling concomitantly promote hypertrophic cardiomyopathy in RAF1- associated noonan syndrome. Circulation. (2019) 140(3):207–24. doi: 10.1161/ CIRCULATION AHA.118.037227
172. Montag J, Petersen B, Flögel AK, Becker E, Lucas-Hahn A, Cost GJ, et al. Successful knock-in of hypertrophic cardiomyopathy-mutation R723G into the Li and Wang 10.3389/fped.2023.1147362 Frontiers in Pediatrics 10 frontiers MYH7 gene mimics HCM pathology in pigs. Sci Rep. (2018) 8(1):4786. doi: 10.1038/ s41598-018-22936-z
173. Ma H, Marti-Gutierrez N, Park SW, Wu J, Lee Y, Suzuki K, et al. Correction of a pathogenic gene mutation in human embryos. Nature. (2017) 548(7668):413–9. doi: 10.1038/nature23305
174. Greutmann M, Mah ML, Silversides CK, Klaassen S, Attenhofer Jost CH, Jenni R, et al. Predictors of adverse outcome in adolescents and adults with isolated left ventricular noncompaction. Am J Cardiol. (2012) 109(2):276–81. doi: 10.1016/j. amjcard.2011.08.043
175. Hirono K, Miyao N, Yoshinaga M, Nishihara E, Yasuda K, Tateno S, et al. A significance of school screening electrocardiogram in the patients with ventricular noncompaction. Heart Vessels. (2020) 35(7):985–95. doi: 10.1007/s00380-020-01571-7
176. Towbin JA, Lorts A, Jefferies JL. Left ventricular non-compaction cardiomyopathy. Lancet. (2015) 386(9995):813–25. doi: 10.1016/S01 40-6736(14) 61282-4
177. Towbin JA, Beasley G. Left ventricular noncompaction and vigorous physical activity: what is the connection? J Am Coll Cardiol. (2020) 76(15):1734–6. doi: 10. 1016/j.jacc.2020.08.051
178. Pelliccia A, Sharma S, Gati S, Bäck M, Börjesson M, Caselli S, et al. 2020 ESC guidelines on sports cardiology and exercise in patients with cardiovascular disease. Eur Heart J. (2021) 42(1):17–96. doi: 10.1093/eurheartj/ehaa605
179. Pignatelli RH, McMahon CJ, Dreyer WJ, Denfield SW, Price J, Belmont JW, Craigen WJ, Wu J, El Said H, Bezold LI, Clunie S, Fernbach S, Bowles NE, Towbin JA. Clinical characterization of left ventricular noncompaction in children: a relatively common form of cardiomyopathy. Circulation. 2003;108:2672–2678. doi: 10.1161/01. CIR.0000100664.10777.B8.
180. Wald R, Veldtman G, Golding F, Kirsh J, McCrindle B, Benson L. Determinants of outcome in isolated ventricular noncompaction in childhood. Am J Cardiol. 2004;94:1581–1584. doi: 10.1016/j.amjcard.2004.08.047.
181. Ichida F, Hamamichi Y, Miyawaki T, Ono Y, Kamiya T, Akagi T, Hamada H, Hirose O, Isobe T, Yamada K, Kurotobi S, Mito H, Miyake T, Murakami Y, Nishi T, Shinohara M, Seguchi M, Tashiro S, Tomimatsu H. Clinical features of isolated noncompaction of the ventricular myocardium: long-term clinical course, hemodynamic properties, and genetic background. J Am Coll Cardiol. 1999;34:233–240.
182. Jefferies JL, Wilkinson JD, Sleeper LA, et al. Cardiomyopathy phenotypes and outcomes for children with left ventricular myocardial noncompaction: results from the pediatric cardiomyopathy registry. J Card Fail. 2015;21(11): 877–84.
183. Miszalski-Jamka K, Jefferies JL, Mazur W, Głowacki J, Hu J, Lazar M, et al. Novel genetic triggers and genotype-phenotype correlations in patients with left ventricular noncompaction. Circ Cardiovasc Genet. (2017) 10(4):e001763. doi: 10. 1161/CIRCGENETICS.117.001763
184. Akhtar T, Bandyopadhyay D, Ghosh RK, Mondal S. Left ventricular noncompaction cardiomyopathy: recent update on genetics, usefulness of biomarker, and speckle imaging. J Cardiol. (2019) 73(1):94–5. doi: 10.1016/j.jjcc. 2018.05.016
185. Alawani SS, Paul A, Krishna MR, Ahamed H. Familial left ventricular noncompaction cardiomyopathy due to a novel mutation in the MYH 7 gene. Ann Pediatr Cardiol. (2021) 14(4):544 –6. doi: 10.4103/apc.APC_92_20
186. Parent JJ, Towbin JA, Jefferies JL. Left ventricular noncompaction in a family with lamin A/C gene mutation. Tex Heart Inst J. (2015) 42(1):73–6. doi: 10.14503/ THIJ-13-3843
187. Wang J, Guo Y, Huang M, Zhang Z, Zhu J, Liu T, et al. Identification of TAZ mutations in pediatric patients with cardiomyopathy by targeted next-generation sequencing in a Chinese cohort. Orphanet J Rare Dis. (2017) 12(1):26. doi: 10.1186/ s13023-016-0562-4
188. Wang C, Hata Y, Hirono K, Takasaki A, Ozawa SW, Nakaoka H, et al. A wide and specific spectrum of genetic variants and genotype-phenotype correlations revealed by next-generation sequencing in patients with left ventricular noncompaction. J Am Heart Assoc. (2017) 6(9):e00 6210. doi: 10.1161/JAHA.117. 006210
189. Miyao N, Hata Y, Izumi H, Nagaoka R, Oku Y, Takasaki I, et al. TBX5 R264k acts as a modifier to develop dilated cardiomyopathy in mice independently of T-box pathway. PLoS One. (2020) 15(4):e0227393. doi: 10.1371/journal.pone.0227393
190. Samudrala SSK, North LM, Stamm KD, Earing MG, Frommelt MA, Willes R, et al. Novel KLHL26 variant associated with a familial case of Ebstein’s anomaly and left ventricular noncompaction. Mol Genet Genomic Med. (2020) 8(4):e1152. doi: 10. 1002/mgg3.1152
191. Tariq M, Ware SM. Importance of genetic evaluation and testing in pediatric cardiomyopathy. World J Cardiol. (2014) 6(11):1156–65. doi: 10.433 0/wjc.v6.i11.1156
192. Wang D, Tai PWL, Gao G. Adeno-associated virus vector as a platform for gene therapy delivery. Nat Rev Drug Discov. (2019) 18(5):358–78. doi: 10.1038/ s41573-019-0012-9
193. Maule G, Arosio D, Cereseto A. Gene therapy for cystic fibrosis: progress and challenges of genome editing. Int J Mol Sci. (2020) 21(11):3903. doi: 10.3390/ijms21113903
194. Ylä-Herttuala S, Baker AH. Cardiovascular gene therapy: past, present, and future. Mol Ther. (2017) 25(5):1095–106. doi: 10.1016/j.ymthe.2017 .03.027