ARVD/C is a disorder of the cardiac muscle that is characterized by ventricular arrhythmias, structural abnormalities, and progressive replacement of cardiac muscle by a fibrous and fatty tissue. The prevalence of ARVD/C in the United States is approximately 1 in 5000. ARVD/C is usually identified in individuals between 5 and 40 years of age, and presents as ventricular arrhythmia or heart failure, but can also cause sudden death. A set of clinical diagnostic criteria for ARVD/C called the International Task Force (ITF) diagnostic criteria is widely used, but does not include genetic information. ARVD/C is a heritable disorder that typically occurs with an autosomal dominant pattern of inheritance. Twelve different types of ARVD/C have been defined based on the genes involved. Many of the genes that are linked with ARVD/C encode components of the
desmosome, which form intercellular junctions and are common in tissues such as heart muscle. This report focuses on the clinical genetic testing for ARVD/C that is currently available in the United States: type 5 and types 8 to 11, which are caused by sequence variants in the transmembrane protein 43 (TMEM43), desmoplakin (DSP), plakophilin 2 (PKP2), desmoglein 2 (DSG2), and desmocollin 2 (DSC2) genes, respectively.