A Rare Case of Arrhythmogenic Right Ventricular Cardiomyopathy Induced by LAMA2 mutation

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 alpha 2 chain of laminin-211 protein, which establishes a stable relationship between muscle fiber membrane and extracellular matrix. We explored the potential mechanism and the relationship between the mutation and ARVC.