Arrhythmogenic Right Ventricular Cardiomyopathy Panel: Sequencing

Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) is a progressive disorder caused by fatty replacement of muscle tissue that predisposes to ventricular tachycardia and sudden death. It primarily affects the right ventricle. The presentation of the disease is highly variable within affected individuals and their families.

ARVC is an autosomal dominantly inherited condition, which is genetically heterogeneous. Mutations in several different genes are known to cause ARVC, including: DSP (locus name ARVD8), located on chromosome 6 which encodes the protein desmoplakin; PKP2 (locus name ARVD9), located on chromosome 12 which encodes the desmodermal protein plakophilin-2; and DSG2 (locus name ARVD10), located on chromosome 18 which encodes the protein desmoglein-2 and the DSC2 (locus name ARVD11), located on chromosome 18 which encodes the protein desmocollin-2. Approximately 45% of ARVC patients will have mutations in the DSP, PKP2, DSG2 or DSC2 gene. Many cases of ARVC are due to mutations in unknown genes. Molecular testing for ARVC consists of complete sequencing of the coding region and flanking exon/intron boundaries of the many genes listed above to detect mutations.

ARVC is present when an individual has one copy of the defective DSP/PKP2/DSG2/DSC2 gene. Affected individuals have a 50% chance of transmitting the disorder to each child. There is a 50% chance that the affected individual’s offspring will not be affected with ARVC.

See related information sheet Arrhythmogenic Right Ventricular Cardiomyopathy