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.