Desmoplakin Cardiomyopathy in Pediatric Patients: A Distinct, Underrecognized Cohort of Arrhythmogenic Cardiomyopathy

Authors

Nak Hyun Choi, Division of Pediatric Cardiology, Morgan Stanley Children's Hospital of New York-Presbyterian, Columbia University Medical Center (N.H.C., L.L., E.S.S., T.M.L., W.A.Z.).
Sara Cherny, Division of Cardiology, Ann and Robert H. Lurie Children's Hospital of Chicago, Northwestern University Feinberg School of Medicine, IL (S.C., A.J.).
Charles I. Berul, Division of Cardiology, Department of Pediatrics, Children's National Hospital, George Washington University School of Medicine, DC (N.H.C., C.I.B.).
William R. Goodyer, Division of Pediatric Cardiology, Department of Pediatrics, Stanford University School of Medicine, Palo Alto, CA (W.R.G.).
Taylor S. Howard, Department of Pediatrics, Division of Pediatric Cardiology, Baylor College of Medicine, Texas Children's Hospital, Houston (T.S.H.).
Anna Joong, Division of Cardiology, Ann and Robert H. Lurie Children's Hospital of Chicago, Northwestern University Feinberg School of Medicine, IL (S.C., A.J.).
Leonardo Liberman, Division of Pediatric Cardiology, Morgan Stanley Children's Hospital of New York-Presbyterian, Columbia University Medical Center (N.H.C., L.L., E.S.S., T.M.L., W.A.Z.).
Eric S. Silver, Division of Pediatric Cardiology, Morgan Stanley Children's Hospital of New York-Presbyterian, Columbia University Medical Center (N.H.C., L.L., E.S.S., T.M.L., W.A.Z.).
Chet R. Villa, Department of Pediatrics, The Heart Institute, Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, OH (C.R.V.).
Teresa M. Lee, Division of Pediatric Cardiology, Morgan Stanley Children's Hospital of New York-Presbyterian, Columbia University Medical Center (N.H.C., L.L., E.S.S., T.M.L., W.A.Z.).
Warren A. Zuckerman, Division of Pediatric Cardiology, Morgan Stanley Children's Hospital of New York-Presbyterian, Columbia University Medical Center (N.H.C., L.L., E.S.S., T.M.L., W.A.Z.).

Document Type

Journal Article

Publication Date

11-1-2024

Journal

Circulation. Arrhythmia and electrophysiology

Volume

17

Issue

11

DOI

10.1161/CIRCEP.124.013114

Keywords

Arrhythmogenic Right Ventricular Cardiomyopathy; desmoplakins; myocarditis; pediatrics

Abstract

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 compound heterozygous DSP variants were likely to present at an early age (<13 years) with symptoms of heart failure, severe biventricular involvement, and dermatologic abnormalities. Low-voltage QRS was the most prominent ECG abnormality. Of those who underwent implantable cardioverter defibrillator implantation, 50% received appropriate implantable cardioverter defibrillator therapy and were found to have significant biventricular involvement in addition to severe left ventricular dysfunction with an ejection fraction <35%. CONCLUSIONS: DSP cardiomyopathy in children and adolescents has varied phenotypic manifestations based on age and genotype and often can be diagnosed as myocarditis. Severe left ventricular dysfunction and biventricular involvement may be associated with a higher likelihood of malignant ventricular tachyarrhythmia.

APA Citation

Choi, Nak Hyun; Cherny, Sara; Berul, Charles I.; Goodyer, William R.; Howard, Taylor S.; Joong, Anna; Liberman, Leonardo; Silver, Eric S.; Villa, Chet R.; Lee, Teresa M.; and Zuckerman, Warren A., "Desmoplakin Cardiomyopathy in Pediatric Patients: A Distinct, Underrecognized Cohort of Arrhythmogenic Cardiomyopathy" (2024). GW Authored Works. Paper 6044.
https://hsrc.himmelfarb.gwu.edu/gwhpubs/6044

Department

Pediatrics