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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.\xa0\xa0Episode script and notes were developed by Dr. Anjali Wagle. Audio editing by\xa0CardioNerds Academy Intern,\xa0student doctor Chelsea Amo Tweneboah.\n\n\n\nThis 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.\n\n\n\nThis CardioNerds Cardiovascular Genomics series is a multi-institutional collaboration made possible by contributions of stellar fellow leads and expert faculty from several programs.\n\n\n\nCheck out this REVIEW describing the \u201cMultimodality Imaging in Arrhythmogenic Right Ventricular Cardiomyopathy\u201d by Nitin Malik, Allison Hays, and colleagues.\xa0\xa0\n\n\n\nFor related episodes, please enjoy these case-based discussions:\xa0\n\n\n\n\nEp 56. Case Report: Arrhythmogenic Desmoplakin Cardiomyopathy \u2013 Northwestern University\xa0\n\n\n\n\n\nEp 74. Case Report: Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) \u2013 Summa Health\xa0\n\n\n\n\n\n\nPearls \u2022 Notes \u2022 References \n\n\n\n\n\n\n\n\n\n\n\nCardioNerds Cardiovascular Genomics PageCardioNerds Episode PageCardioNerds AcademyCardionerds Healy Honor Roll\n\n\n\n\n\nCardioNerds Journal ClubSubscribe to The Heartbeat Newsletter!Check out CardioNerds SWAG!Become a CardioNerds Patron!\n\n\n\n\n\n\n\n\n\nShow notes - Genetic Counseling & Family Screening in Arrhythmogenic Cardiomyopathies\n\n\n\nNotes (developed by Dr. Anjali Wagle)\xa0\xa0\n\n\n\n\nWhat is the underlying pathophysiology of arrhythmogenic RV cardiomyopathy (ARVC)?\xa0\n\n\n\n\n\nFibrofatty replacement cardiac myocytes\xa0\n\n\n\nAssociated with genetically mediated disruption of desmosomal proteins\xa0\xa0\n\n\n\nThis leads to thinning and weakness of the heart that can lead to aneurysms and progressive dilatation and failure of the right ventricle (RV)\xa0\n\n\n\n\n\nHow is ARVC diagnosed?\xa0\n\n\n\n\n\n2010 taskforce criteria (Marcus et al, 2010):\xa0\xa0\xa0\n\nRV structural abnormalities including findings seen on echocardiogram, MRI, and RV angiography\xa0\n\n\n\nPathological criteria\xa0\n\n\n\nRepolarization abnormalities\xa0\xa0\n\n\n\nDepolarization/conduction abnormalities\xa0\xa0\n\n\n\nVentricular arrhythmias\xa0\xa0\n\n\n\nGenetics and/or family history\xa0\xa0\n\n\n\n\n\n\n\n\n\n\n\nHow does ARVC present?\xa0\xa0\n\n\n\n\n\nYoung, healthy individual will have symptoms of arrhythmias (syncope, pre-syncope, SCD) or heart failure\xa0\n\n\n\nFamily screening\xa0\xa0\n\n\n\n\n\nWhat are the inheritance and genetic factors of ARVC?\xa0\n\n\n\n\n\nAutosomal dominant pattern\xa0\n\n\n\n\n\nLow penetrance and variable expressivity\xa0\xa0\n\n\n\nHalf of patients who are index cases will be found to have a mutation in the desmosomal gene.\xa0\xa0\n\n\n\n\n\nWhat are the most common mutations associated with ARVC?\xa0\n\n\n\n\n\nMost commonly the genes involved are plakophilin-2 (PKP-2) and desmoplakin.\xa0\xa0\n\n\n\n\n\nFor PKP-2 the most common mutations are truncating mutations.\xa0\xa0\n\n\n\nIn patients who have inherited two truncating mutations, this will result in neonatal lethality.\xa0\xa0\n\n\n\n\n\nIs there a difference in the genetic factors of left and right arrhythmogenic cardiomyopathy?\xa0\xa0\n\n\n\n\n\nACM is disproportionally a right dominated cardiomyopathy. Left dominated cardiomyopathy has a different genetic profile.\xa0\xa0\n\n\n\n\n\nPathogenic variants in desmoplakin disproportionally cause biventricular forms of ACM or left dominated forms.