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Familial arrhythmogenic cardiomyopathy presenting with aborted sudden cardiac arrest in an adolescent: a novel DSP
Ana Raquel Marques1, Joana Novais Pimenta1, Ana Grangeia2,3
1Department of Pediatric Cardiology, São João Local Health Unit, Portugal.
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.
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