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Challenges and Opportunities in Congenital Heart Disease

Challenges and Opportunities in Congenital Heart Disease

Ronaldo, A. and Tiago, R. (2024)


Introduction: The diagnosis of congenital heart diseases is a challenge for pediatricians due to the diversity of clinical presentations and symptoms, just like several other diseases prevalent in the neonatal period. Often the diagnosis is established during the gestation period, sometimes the hypothesis is formulated by neonatal screening. However, several cases will require clinical suspicion from the pediatrician. Given the possibility of this diagnosis, the evaluation of the infant cardiologist is essential. Unfortunately, this professional is not always readily available. In the intensive care units, health professionals use heart rate, blood pressure, capillary refill, urinary output and acid-base balance for hemodynamic analysis. These data are significant, but nonspecific. Thus, functional echocardiography can improve hemodynamic evaluation with positive impact on diagnosis. Our objective was to conduct a retrospective analysis of hospitalizations in a Brazilian neonatal unit, with the goal of identifying the diagnoses of congenital heart diseases made by a researcher using functional echocardiography, from July 2015 to September 2017, having as inclusion criteria; clinical manifestations of distress or respiratory failure, characterized by tachypnea, signs of dyspnea, need for oxygen therapy or ventilatory support and/or hemodynamic instability, characterized by tachycardia, cyanosis, cold extremities, prolonged capillary filling time, fine pulses and/or hypotension, low urinary output. Results: During the 26 months of the study, 362 neonates were hospitalized. Of these, 223 were included in the research for presenting cardiorespiratory manifestations. We observed three cases of obstructive shock related to cardiac tamponade, 18 cases of congenital heart disease, five cases of hypertrophic myocardiopathy, seven cases of myocardial dysfunction not related to structural heart disease, 46 cases of neonatal persistent pulmonary hypertension and 27 cases of patent ductus arteriosus (six with hemodynamics repercussion). Conclusions: The results showed functional and/or anatomical changes in 105 patients analyzed (46.7%), identified a diversity of structural cardiopathies, improved hemodynamic evaluation with impact on the therapeutic approach. While using functional echocardiography in neonates, clinicians should be aware that undiagnosed critical congenital heart defects can present during this period. They should acknowledge the limitations of skills, and it should not be used as a screening tool for diagnosing or excluding congenital heart defects. A patient with a suspected critical congenital heart defect should be quickly referred to a pediatric cardiologist, even if this implies out-of-hospital patient’s transportation. We assume that the systematic implementation of this technology by the medical team can improve diagnostic accuracy, which can positively impact the therapy used.

Torres, R. A., Torres, T., De Andrade, F. M., & Bastos, M. G. (2023)


Introduction: Congenital heart diseases represent the most frequent form of malformation and can be diagnosed by fetal echocardiography, neonatal screening or clinical signs. Whenever this is suspected, a pediatric cardiologist should be contacted, and comprehensive echocardiography performed. But the availability of a specialist for immediate implementation is not the reality of many services. As functional echocardiography is often carried out in neonatal units because of its utility in several clinical situations, we consider its usefulness in diagnosing congenital heart diseases. Case reports: we report two cases of transposition of the great arteries diagnosed by functional echocardiography. Case 1 was a premature neonate transferred to the neonatal unit with a suspected diagnosis of respiratory distress syndrome and sepsis without improvement with initial treatment. Functional echocardiography on admission allowed the diagnosis of transposition of the great arteries. Case 2 was a full-term neonate with early cyanosis, with functional echocardiography suggesting transposition of the great arteries and the images used for discussion with a specialist from a reference center, speeding up the transfer. Discussion: early recognition of critical heart disease is essential to improve prognosis. Diagnosis of these diseases can be performed by fetal echocardiography, neonatal screening and clinical signs. When congenital heart structural defect is likely, pediatric cardiologist should be consulted and comprehensive echocardiography promptly performed. Functional echocardiography has been performed in neonatal units with the aim of analyzing the patent ductus arteriosus and ventricular function, diagnosing cardiac tamponade and neonatal persistent pulmonary hypertension. As not all services have a pediatric cardiologist readily available, we considered whether functional echocardiography could help in the diagnostic conclusion through systematic analysis of cardiac images. 

Conclusion: we reinforce that comprehensive echocardiography performed by a specialist is the first option or performed as soon as possible when congenital heart disease is the main hypothesis.

Da Silva Mengue, C., Pellanda, L. C., Parodi, M. B., & Vilela, M. (2023)


Background: Among congenital diseases, congenital heart disease is one of the most frequent defects, accounting for high morbidity and mortality rates. Coexistence of ocular sequelae, especially in retinal microvascularization, is frequent, and may be a marker of vascular damage and severity of underlying disease.

Aims: To identify ocular anatomical repercussions in children with congenital heart diseases; to describe the prevalence of potential markers associated with retinal vessels using a smartphone.

Methods: This was a cross-sectional observational study with children diagnosed with congenital heart disease treated at the Instituto de Cardiologia in Porto Alegre-RS from 4 up to (but not over) 18 years old.

Results: Of a total of 218 patients assessed, 206 were included in the study. Mean age was 10.19 years +- 3.88. Uncorrected visual acuity poorer than 0.6 in at least one eye was found in 11.65% (24) of all patients. Regarding retinal findings, estimated mean arterial tortuosity was 437.79 μm, and estimated mean venous tortuosity was 336.41 μm. Taking only the cyanotic group, the arterial mean reached 557.29 μm, and the venous mean reached 401.86 (p=.001 and p=.004, respectively). In the multivariate analysis, estimated mean arterial tortuosity of cyanotic patients undergoing clinical treatment was 699.13 μm versus 489.74 μm for those without clinical treatment (p<0.001).

Conclusion: Presence of retinal vascular tortuosity, especially in the arterial bed, is associated with cyanotic CHD. Identification of ocular changes, especially through an easily accessible and universal method such as the smartphone, may have diagnostic and prognostic significance.

Karkar, M., & Lambe, A. (2023)


Introduction: Congenital heart disease (CHD) is a common birth defect that occurs in approximately 1% of live births worldwide. Cleft lip and palate (CLP), another common birth defect, affecting approximately 1 in 600- 800 live births in India. Several studies have reported an association between CHD and CLP, however, there is limited data on the prevalence and types of CHD in patients with CLP in rural areas of developing countries, including India. This study aimed to investigate the prevalence and types of CHD in patients with CLP at a rural hospital in central Maharashtra, India.

Methods: This retrospective study included medical records of patients with isolated Cleft lip, isolated cleft palate and patients with cleft lip and palate, between January 2018 and December 2020. The study was conducted at a rural hospital in central Maharashtra, India. The patients’ records were examined for any heart disease. Patients who had a diagnosis of CHD were identified through medical records and echocardiography reports. The prevalence and types of CHD were compared between the two groups using descriptive statistics and chi-square tests.

Results: A total of 291 patients were included in our study. 169 were males and 122 were females. Congenital heart diseases were found in 12.37% (n=36) patients.5 Cleft lip (13%), 12 Cleft lip and palate (48%), 19 Isolated cleft palate (39%) were diagnosed with Congenital heart diseases. The types of Congenital Heart Diseases reported in our study were atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Pulmonic Stenosis and Tetralogy of Fallot.  

Conclusion: The most common types of CHD in both groups were ASD and VSD, but the prevalence of these defects was significantly higher in the CLP group. These findings have important implications for the multidisciplinary Perioperative management of patients with CLP, as they may require close monitoring for CHD and appropriate intervention if necessary, especially in resource-limited settings.

Sood, V., & Ohye, R. G. (2023)


Patch material is frequently used by pediatric cardiac surgeons during repair of congenital heart disease. The ideal patch material would be pliable, durable, promote native tissue ingrowth, and allow for somatic growth. Intraoperatively, other desirable characteristics would include the material be hemostatic (i.e. lack of bleeding at needle holes) and isotropic (i.e. stretching in all directions, allowing for complex 3-dimensional patches). Decellularized, porcine, small-intestinal, submucosal, extracellular matrix material has shown promise as a potentially ideal patch material. Proxicor (4-ply) and Tyke (2-ply) (Aziyo Biologics, Silver Spring, MD) are commercially available, extracellular matrix material products that are approved by the United States Food and Drug Administration for use in pediatric cardiac surgery. While initial studies were encouraging regarding the extracellular matrix material potential for native tissue ingrowth, subsequent studies have not reproduced the early findings. In most histological analyses, explanted extracellular matrix material has demonstrated chronic inflammatory cell migration and scarring. Despite the lack of transformation, extracellular matrix material does have the advantages of remaining pliable and resisting calcification, which are desirable in the reconstruction of congenital heart defects.

Pfützner, A., Schaedlich, M., Möller, P., Gupta, S., Pätilä, T., Räisänen, I. T., & Sorsa, T. (2023)


The SARS-CoV-2 virus leads to symptoms ranging from mild flu symptoms to severe COVID-19 pneumonia requiring mechanical ventilation and even death. According to epidemiological observations, diabetes mellitus is a major risk factor for severe outcome, next to older age, s, hypertension, and other serious chronic illnesses. Recent studies have determined that the oral cavity mucosa is the main entry portal for the SARS-CoV-2 virus into the body. The viruses accumulate in the mouth at locations where the main viral receptor is highly expressed. The oral pathway of the virus into the body and the contributing factors are described in this review. The immune system of people with diabetes is generally impaired. Diabetes induces chronic systemic inflammation, which regularly manifests as periodontitis in the oral cavity. Furthermore, frequent hyperglycemia leads to additional weakening of the mucosal immune barrier. These findings provide plausible explanations for the more frequent severe courses of respiratory viral infections in diabetes patients. An oral examination helps to identify patients at elevated  risk. Activated matrix metalloproteinase-8 (aMMP-8) is an established biomarker for measuring the degree of oral inflammation and is an indicator of the destruction of collagen and bone structures in the mouth. aMMP-8 point-of-care tests are readily available. We propose that the current recommendations for the prevention of SARS-CoV-2-associated severe COVID-19 disease should be extended to consider the aspects of measuring and sanitizing oral health, as well as to include preventive regular daily disinfection of the mouth and the pharynx.