Gene DSG2
Back to Curriculum
Also known as
ARVD10, CDHF5, CMD1BB, desmoglein 2Overview
DSG2 (Desmoglein 2) encodes a desmosomal cadherin essential for cell-cell adhesion in cardiac muscle and other tissues. Desmoglein-2 is the only desmoglein expressed in all layers of the heart and is critical for maintaining mechanical integrity of the myocardium during the repetitive stress of cardiac contraction.Mutations in DSG2 are a major cause of arrhythmogenic right ventricular cardiomyopathy (ARVC), accounting for approximately 10% of cases. DSG2 mutations can also cause dilated cardiomyopathy. The disease mechanism involves weakened cell adhesion leading to myocyte death during mechanical stress, followed by fibrofatty replacement that creates arrhythmogenic substrates.
Understanding your DSG2 genetic status is essential for individuals with unexplained ventricular arrhythmias or family history of ARVC or sudden cardiac death. Genetic diagnosis enables risk stratification, appropriate exercise restrictions (vigorous exercise accelerates disease progression), and cardiac monitoring to prevent sudden death.