E ISSN: 2583-049X

International Journal of Advanced Multidisciplinary Research and Studies

Volume 4, Issue 3, 2024

A Case of Dilated Cardiomyopathy caused by TTN Truncating Mutation

Author(s): Hao Thai Phan

DOI: https://doi.org/10.62225/2583049X.2024.4.3.2830


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 titin (TTN) gene represent an important subset of known disease-causing mutations associated with dilated cardiomyopathy. TTN truncating mutations are a common cause of dilated cardiomyopathy, occurring in approximately 25% of familial cases of idiopathic dilated cardiomyopathy and in 18% of sporadic cases. Here, we presented a case of dilated cardiomyopathy caused by TTN mutation in 20-year-old male.

Keywords: Dilated Cardiomyopathy, Genetics, TTN Truncating Mutation

Pages: 612-615

Download Full Article: Click Here