Introduction:
Nonischemic dilated cardiomyopathy (DCM) is characterized by ventricular
dilation and impaired systolic function, not resulting from coronary
artery disease or abnormal loading conditions (1). It has a diverse
etiology, including genetic factors like Titin (TTN) gene mutations.
TTN, a crucial sarcomeric protein, maintains cardiomyocyte structural
integrity and elasticity. Its mutations, particularly TTN-truncating
variants (TTNtvs), are implicated in DCM, influencing cardiomyopathy’s
clinical course (1,2).
This case report aims to explore the complex interplay of genetic and
environmental factors in DCM, with a focus on the role of TTNtvs. We
present a case of a young male with DCM, examining the contributions of
genetic predisposition and lifestyle factors, including substance abuse,
to his cardiac pathology. The report underscores the importance of
genetic testing in DCM diagnosis and management, especially in patients
with a family history of cardiomyopathy.