Arrhythmogenic Right Ventricular Cardiomyopathy: A Review of Living and Deceased Probands

Background Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a potentially life-threatening genetic cardiomyopathy with a spectrum of clinical presentations including sudden cardiac death (SCD). Methods Clinical and genetic data of 44 probands referred to a cardiac genetics clinic (2007–2017) who met 2010 Task Force Criteria (TFC) for ARVC diagnosis were included. Results Thirty-three (75%) male, 20 (45%) were referred by the Victorian Institute of Forensic Medicine. Presentation that lead to diagnosis included ARVC-related SCD (n = 19), SCD due to alternate cause of death (n = 1), aborted cardiac arrest (n = 6), stable symptomatic ventricular tachycardia (n = 14), palpitations (n = 3) and presyncope (n = 1). Left ventricular involvement (50%) was more common in the SCD subgroup (84% vs 21%, p  Conclusions Arrhythmogenic right ventricular cardiomyopathy has a heterogeneous and often severe clinical presentation. Sudden cardiac death and aborted cardiac arrest (ACA) are common, demonstrating electrical abnormalities appear early in the ARVC phenotype. Left ventricular involvement was common and may reflect a worse prognosis. Genetic testing is essential in family screening and may be helpful in risk assessment. Desmoplakin mutation is associated with LV involvement and may be indicative of worse prognosis and increased risk of SCD. Genetic screening of proband family members in a specialised multidisciplinary clinic is essential in early diagnosis of affected family members.