PKP2 Gene Mutation Causing Left Ventricular Non-compaction with Atrial Septal Defect in a Neonate: A Case Report

Arrhythmogenic ventricular cardiomyopathy (AVC) is an inherited cardiomyopathy that predisposes to ventricular arrhythmias (VA), leading to sudden cardiac death in young patients. Familial arrhythmogenic right ventricular dysplasia-9 (ARVD9) is caused by heterozygous mutations in the PKP2 gene (602861), which encodes plakophilin-2, an essential armadillo repeats protein of the cardiac desmosome, on chromosome 12p11. We are reporting a 15-day-old neonate (after obtaining proper written consent from the parents) with a history of two sibling deaths in early childhood who presented with VA with left ventricular non-compaction with atrial septal defect later diagnosed as AVC on the genetic study, the first of its kind, who survived on conservative management and did well on follow-up.