Field Guidance for Genetic Screening in Patients with Cardiomyopathies

Thursday, May 4, 2023

4:00am PDT

1 hour

C.E.U.: 1 Category 1 Contact Hour

P.A.C.E.: 1 Unit

Patients and families benefit when the genetic etiology of cardiomyopathy is elucidated through a multidisciplinary approach including genetic counseling and judicious use of genetic testing. In this presentation, Dr. Kontorovich will discuss techniques to optimize the yield of genetic testing in the work-up for patients and families with cardiomyopathy, the concerns around potential overinterpretation of variants of uncertain significance and the impact of confirmatory genetic results with a special focus on genotypes that dictate personalized approaches to treatment.

Level of Instruction: Intermediate

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Amy Kontorovich

Associate Professor of Medicine at the Icahn School of Medicine at Mount Sinai Director of the Center for Inherited Cardiovascular Diseases

Dr. Kontorovich is Director of the Center for Inherited Cardiovascular Diseases and Associate Professor of Medicine in Cardiology and in Genomic Medicine at the Icahn School of Medicine at Mount Sinai in New York City. Dr. Kontorovich’s clinical practice is focused on the diagnosis and management of individuals with hereditary cardiovascular conditions including cardiomyopathies, vascular connective tissue disorders and aortopathies, channelopathies, dyslipidemias and sudden cardiac death. Dr. Kontorovich received a Bachelors of Science and Engineering in Bioengineering from the University of Pennsylvania and an MD/PhD from Stony Brook University. After completing residency and cardiology fellowship training at Mount Sinai, Dr. Kontorovich joined the faculty to form the Adult Cardiovascular Genetics Clinic as part of Mount Sinai’s multidisciplinary Cardiovascular Genetics Program.

Dr. Kontorovich is a cardiologist with extensive experience in the research and clinical domains of heritable cardiovascular disorders. Her research centers on identifying novel genetic factors underlying cardiovascular diseases including myocarditis, cardiomyopathies and aortopathies as well as studying the natural history, penetrance and prevalence of hereditary transthyretin amyloidosis. Dr. Kontorovich’s research has been supported by the New York Academy of Medicine, the Children’s Cardiomyopathy Foundation the National Institutes of Health and industry partners. Regarded as an expert in hereditary cardiovascular disease, Dr. Kontorovich has served as an invited speaker and panelist on the topics of genetic testing for cardiovascular disease and genetic cardiomyopathies and arteriopathies at numerous regional, national and international meetings.

Margo Gallegos

Genomic Science Liaison II, Ambry Genetics

Margo Gallegos joined Ambry Genetics in 2020 as the Specialty Genomic Science Liaison for the Northeast United States territory. She previously worked as a pediatric genetic counselor at Children’s National Medical Center in Washington, D.C, and an oncology genetic counselor at Anne Arundel Medical Center in Annapolis, MD. Her volunteer interests include public policy and licensure of genetic counselors both at the state and federal level. Margo received her Bachelors of Science degree in Cell Biology and Genetics from University of Maryland, College Park. She earned her Masters of Science degree in Genetic Counseling from University of South Carolina School of Medicine and is certified by the American Board of Genetic Counseling.