Left-dominant arrhythmogenic cardiomyopathy: an association with desmoglein-2 gene mutation-a case report.

ABSTRACT:

Background

Desmosomes are specialized intercellular adhesive junctions of cardiac and epithelial cells that provide intercellular mechanical coupling through glycoproteins, one of which is desmoglein (DSG). DSG-2 mutations are frequently associated with biventricular arrhythmogenic cardiomyopathy (ACM). We report a case of left-dominant ACM in a patient who initially was misclassified as dilated cardiomyopathy (DCM).

Case summary

A 28-year-old-woman was found to have a moderately reduced left ventricular (LV) systolic function and frequent premature ventricular contractions (PVCs). Targeted genetic testing revealed a heterozygous likely pathogenic variant associated with ACM in exon 15 of the DSG-2 gene (c.3059_3062del; p.Glu1020Alafs*18). Subsequent cardiac magnetic resonan

SUBMITTER: Lao N 

PROVIDER: S-EPMC8274644 | biostudies-literature | 2021 Jun

REPOSITORIES: biostudies-literature