Desmoplakin Cardiomyopathy in Pediatric Patients: A Distinct, Underrecognized Cohort of Arrhythmogenic Cardiomyopathy | Circulation: Arrhythmia and Electrophysiology
BACKGROUND: DSP cardiomyopathy is a distinct subset of arrhythmogenic cardiomyopathy, reported primarily in adults, that has predominantly left ventricular involvement and features of myocarditis. Clinical characteristics, risk stratification, and management of pediatric patients with DSP variants are not well known. We sought to identify phenotypic features and prognosis of pediatric patients with DSP pathogenic or likely pathogenic variants. METHODS: Multicenter, retrospective study of patients <21 years of age with DSP variants from 6 tertiary pediatric hospitals. RESULTS: Thirty-four patients, including 10 probands with clinical disease and 24 genotype-positive phenotype-negative patients, were included in the study. The majority of probands were initially diagnosed with myocarditis (50%) and had biventricular (60%) or left ventricular predominant (40%) disease. Chest pain was the most common symptom at presentation (30%), and all had troponin elevation. Probands with homozygous or
