Arrhythmogenic left ventricular cardiomyopathy in an adolescent patient with DSP mutation. (September 2021)

• Record Type: Journal Article
• Authors: Choi, Nak Hyun; Liberman, Leonardo; Silver, Eric S.; Zuckerman, Warren A.; Lee, Teresa M.
• Is Part Of: Progress in pediatric cardiology. Volume 62(2021)
• Publication Date: 2021-09
• Subjects: Arrhythmogenic cardiomyopathy -- Desmoplakin cardiomyopathy -- Arrhythmogenic left ventricular cardiomyopathy; Pediatric cardiology -- Periodicals; Cardiovascular Diseases -- Periodicals; Infant; Child; Cardiologie pédiatrique -- Périodiques; 618.9212005
• DOI: 10.1016/j.ppedcard.2021.101405
• Languages: English
• ISSNs: 1058-9813

Abstract

Abstract: The current understanding of the genotype-phenotype relationship in arrhythmogenic cardiomyopathy continues to evolve. Initial studies described arrhythmogenic right ventricular cardiomyopathy as a fibrofatty replacement of cardiac myocytes in the right ventricle associated with a high incidence of ventricular arrhythmias. Newer studies suggest a broader phenotypic array of disease driven by distinct genetic mutations. This includes arrhythmogenic left ventricular cardiomyopathy associated with DSP mutations. Herein, we describe an unusual case of an adolescent male with syncope and findings of ALVC secondary to DSP mutation. Highlights: Arrhythmogenic cardiomyopathy (ACM) represents a diverse phenotypic and genotypic disease entity DSP mutations may be associated with a subtype of ACM involving the left ventricle (arrhythmogenic LV cardiomyopathy)