Familial arrhythmogenic cardiomyopathy presenting with aborted sudden cardiac arrest in an adolescent: a novel DSP variant.

Abstract

Arrhythmogenic cardiomyopathy is a rare genetic disorder linked to malignant arrhythmias and sudden cardiac death. We report a 15-year-old girl presenting with sudden cardiac arrest. Imaging suggested left-dominant arrhythmogenic cardiomyopathy, and genetic testing identified a novel DSP variant. Cardioverter-defibrillator implantation was performed. Family screening revealed affected relatives, highlighting the importance of early diagnosis and risk stratification.