Genetic Counseling & Family Screening in ARVC

In this Cardiovascular Genomics episode, Drs. Dan Ambinder, Anjali Wagle, and James Sampognaro join Dr. Allison Hays and genetic counselor Dr. Cindy James from Johns Hopkins to unpack arrhythmogenic right ventricular cardiomyopathy (ARVC) through a genomics lens. They explore its pathophysiology—desmosomal gene mutations causing fibrofatty myocyte replacement—and the 2010 Task Force diagnostic criteria including imaging, ECG, arrhythmias, genetics, and family history. The discussion emphasizes autosomal dominant inheritance with variable expressivity, the role of PKP2/desmoplakin mutations, and optimal use of echo and MRI for structural and prognostic assessment. Furthermore, the group highlights the critical importance of genetic counseling, cascade testing of relatives, interpreting low penetrance, and tailoring surveillance—including imaging and exercise guidance—to individuals who have been identified as carrying pathogenic variants.

This podcast originally appeared on The CardioNerds.