246. Cardiovascular Genomics: Genetic Counseling & Family Screening in Arrhythmogenic Cardiomyopathies with Dr. Allison Hays and Dr. Cindy James


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The CardioNerds Cardiovascular Genomics Series continues! In this episode Dr. Dan Ambinder (CardioNerds Cofounder and Interventional Cardiologist), Dr. Anjali Wagle (FIT Ambassador at Johns Hopkins) and Dr. James Sampognaro (medicine resident at Johns Hopkins Osler Medicine Residency) learn from Dr. Allison Hays (Associate Professor of Medicine, Division of Cardiology, Johns Hopkins CMR researcher and Medical Director of Echocardiography) and Dr. Cindy James (Associate Professor of Medicine and certified genetic counselor at Johns Hopkins with research focusing on cardiovascular genetic counseling and arrhythmogenic cardiomyopathies). They discuss arrhythmogenic RV cardiomyopathy as the context to learn about genetic counseling and family screening. Episode script and notes were developed by Dr. Anjali Wagle. Audio editing by CardioNerds Academy Intern, student doctor Chelsea Amo Tweneboah. This episode was developed in collaboration with the American Society of Preventive Cardiology and is supported with unrestricted educational funds from Illumina, Inc. All CardioNerds content is planned, produced, and reviewed solely by CardioNerds. This CardioNerds Cardiovascular Genomics series is a multi-institutional collaboration made possible by contributions of stellar fellow leads and expert faculty from several programs. Check out this REVIEW describing the “Multimodality Imaging in Arrhythmogenic Right Ventricular Cardiomyopathy” by Nitin Malik, Allison Hays, and colleagues. For related episodes, please enjoy these case-based discussions: Ep 56. Case Report: Arrhythmogenic Desmoplakin Cardiomyopathy – Northwestern University Ep 74. Case Report: Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) – Summa Health Pearls • Notes • References CardioNerds Cardiovascular Genomics PageCardioNerds Episode PageCardioNerds AcademyCardionerds Healy Honor Roll CardioNerds Journal ClubSubscribe to The Heartbeat Newsletter!Check out CardioNerds SWAG!Become a CardioNerds Patron! Show notes - Genetic Counseling & Family Screening in Arrhythmogenic Cardiomyopathies Notes (developed by Dr. Anjali Wagle) What is the underlying pathophysiology of arrhythmogenic RV cardiomyopathy (ARVC)? Fibrofatty replacement cardiac myocytes Associated with genetically mediated disruption of desmosomal proteins This leads to thinning and weakness of the heart that can lead to aneurysms and progressive dilatation and failure of the right ventricle (RV) How is ARVC diagnosed? 2010 taskforce criteria (Marcus et al, 2010): RV structural abnormalities including findings seen on echocardiogram, MRI, and RV angiography Pathological criteria Repolarization abnormalities Depolarization/conduction abnormalities Ventricular arrhythmias Genetics and/or family history How does ARVC present? Young, healthy individual will have symptoms of arrhythmias (syncope, pre-syncope, SCD) or heart failure Family screening What are the inheritance and genetic factors of ARVC? Autosomal dominant pattern Low penetrance and variable expressivity Half of patients who are index cases will be found to have a mutation in the desmosomal gene. What are the most common mutations associated with ARVC? Most commonly the genes involved are plakophilin-2 (PKP-2) and desmoplakin. For PKP-2 the most common mutations are truncating mutations. In patients who have inherited two truncating mutations, this will result in neonatal lethality. Is there a difference in the genetic factors of left and right arrhythmogenic cardiomyopathy? ACM is disproportionally a right dominated cardiomyopathy. Left dominated cardiomyopathy has a different genetic profile. Pathogenic variants in desmoplakin disproportionally cause biventricular forms of ACM or left dominated forms.

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