A rare case of arrhythmogenic right ventricular cardiomyopathy associated with LAMA2 mutation: A case report and literature review.

ABSTRACT:

Background

Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a heritable heart muscle disorder that predominantly affects the right ventricle. Mutations in genes that encode components of desmosomes, the adhesive junctions that connect cardiomyocytes, are the predominant cause of ARVC. A case with novel heterozygous mutation in the LAMA2 gene is reported here. The protein encoded by LAMA2 gene is the α2 chain of laminin-211 protein, which establishes a stable relationship between the muscle fiber membrane and the extracellular matrix. We explored the potential mechanism and the relationship between the mutation and ARVC.

Case presentation

At the age of 8, the patient developed syncope and palpitation after exercise. Dynamic electrocardiogram recorded co

SUBMITTER: Wang Y 

PROVIDER: S-EPMC9339636 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature