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Home  >  Medical Research Archives  >  Issue 149  > A case of dilated cardiomyopathy caused by TNNT2 mutation diagnosed delayed
Published in the Medical Research Archives
Dec 2023 Issue

A case of dilated cardiomyopathy caused by TNNT2 mutation diagnosed delayed

Published on Dec 25, 2023

DOI 

Abstract

 

Dilated cardiomyopathy is one of the leading causes of heart failure with high morbidity and mortality. Although more than 40 genes have been reported to cause dilated cardiomyopathy, the role of genetic testing in clinical practice is not well defined. Mutations in the troponin T (TNNT2) gene represent an important subset of known disease-causing mutations associated with dilated cardiomyopathy. Mutations in TNNT2, encoding cardiac troponin T, commonly shows early onset, aggressive dilated cardiomyopathy. This observation may influence the decision of whether to undertake clinical genetic testing for TNNT2 in later onset dilated cardiomyopathy. Further, the trigger for late onset dilated cardiomyopathy remains enigmatic. Here, we presented a case of dilated cardiomyopathy caused by TNNT2 mutation in 59-year-old male.

Author info

Hao Phan

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