Novel Mutation in DSP Gene – A Case of Arrhythmogenic Cardiomyopathy with Isolated Left Ventricular Phenotype and High Risk of Sudden Cardiac Death

Introduction

Sudden cardiac death (SCD) in young adults (18–35 years) most commonly results from previously undiagnosed inherited cardiomyopathies. The most common causes of sudden cardiac death are hypertrophic cardiomyopathy and arrhythmogenic cardiomyopathy (ACM), followed by congenital anomalies of coronary arteries, myocarditis, aortic rupture in Marfan’s syndrome, conduction defects, and valve diseases.

ACM accounts for up to 20% of sudden cardiac death in individuals under 35 years of age. In a series of 86 victims of SCD at a young age, ACM accounted for 10.3% of the cases, being the second major cause of SCD. Dilated cardiomyopathy (DCM) is a less frequent cause of SCD in young individuals, accounting for nearly 2% of cases in athletes.

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