Familial Hypertrophic CardiomyopathySymptoms, Doctors, Treatments, Advances & More
Learn About Familial Hypertrophic Cardiomyopathy
View Main Condition: Cardiomyopathy
Hypertrophic cardiomyopathy is a heart condition characterized by thickening (hypertrophy) of the heart (cardiac) muscle. When multiple members of a family have the condition, it is known as familial hypertrophic cardiomyopathy. Hypertrophic cardiomyopathy also occurs in people with no family history; these cases are considered nonfamilial hypertrophic cardiomyopathy.
Variants (also known as mutations) in one of several genes can cause familial hypertrophic cardiomyopathy; the most commonly involved genes are MYH7, MYBPC3, TNNT2, and TNNI3. Other genes may also be involved in this condition, including some that have not been identified.
Familial hypertrophic cardiomyopathy affects an estimated 1 in 200 people worldwide. It is the most common genetic heart disease in the United States. The familial form of hypertrophic cardiomyopathy accounts for more than half of cases.
Familial hypertrophic cardiomyopathy is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Rarely, both copies of the gene are altered, leading to more severe signs and symptoms.
Penn Heart And Vascular Center
Sharlene Day is a Cardiologist in Philadelphia, Pennsylvania. Dr. Day is rated as an Elite provider by MediFind in the treatment of Familial Hypertrophic Cardiomyopathy. Her top areas of expertise are Hypertrophic Cardiomyopathy (HCM), Cardiomyopathy, Familial Hypertrophic Cardiomyopathy, Orchiectomy, and Heart Transplant. Dr. Day is currently accepting new patients.
Brigham And Women's Hospital, Heart And Vascular Center
Dr. Christine E. Seidman is the director of the Cardiovascular Genetics Program and a cardiovascular medicine specialist at Brigham and Women’s Hospital (BWH). In addition, she is the Thomas W. Smith Professor of Medicine at Harvard Medical School.She received her medical degree from The George Washington School of Medicine and Health Sciences. She completed an internal medicine residency at The Johns Hopkins Hospital and a cardiology fellowship at Massachusetts General Hospital. Dr. Seidman is board certified in internal medicine and cardiovascular disease. Her clinical interests include cardiovascular medicine and genetics.Dr. Seidman also leads the Seidman Laboratory to elucidate genetic causes for heart disease and other disorders. Notable achievements include the discovery of the first genetic cause of congenital heart malformations. Dr. Seidman promotes collaboration between the Laboratory and the BWH Cardiovascular Genetics Center to translate research discoveries into better diagnostics and improved management strategies. She has authored over 300 peer-reviewed articles and received research funding from the Howard Hughes Medical Institute and National Institutes of Health. Dr. Seidman is rated as an Elite provider by MediFind in the treatment of Familial Hypertrophic Cardiomyopathy. Her top areas of expertise are Cardiomyopathy, Familial Hypertrophic Cardiomyopathy, Hypertrophic Cardiomyopathy (HCM), Heart Transplant, and Heart Bypass Surgery.
Brigham And Women's Hospital, Heart And Vascular Center
Dr. Neal K. Lakdawala is a cardiovascular medicine specialist at Brigham and Women’s Hospital (BWH). He is also an instructor in medicine at Harvard Medical School (HMS).Dr. Lakdawala received his medical degree from The University of Texas HSCSA. He completed a residency and chief residency in internal medicine at Columbia-Presbyterian Medical Center, a clinical and research fellowship in cardiovascular disease at BWH and a master’s degree in epidemiology at the Harvard School of Public Health. Dr. Lakdawala is board certified in internal medicine, cardiovascular disease and advanced heart failure and transplant cardiology.His clinical expertise includes cardiomyopathy, cardiac sarcoidosis, congestive heart failure, cardiovascular genetics and heart transplantation. Dr. Lakdawala’s research and peer-reviewed publications investigate early phenotypes in genetic cardiomyopathy to identify physiology-based therapeutics for heart failure. He has received research funding from the National Institutes of Health’s Heart Failure Network. Dr. Lakdawala is rated as an Elite provider by MediFind in the treatment of Familial Hypertrophic Cardiomyopathy. His top areas of expertise are Cardiomyopathy, Hypertrophic Cardiomyopathy (HCM), Familial Hypertrophic Cardiomyopathy, Heart Transplant, and Cardiac Ablation.
Summary: The goal of this observational study is to develop a registry of Brazilian patients with hereditary cardiovascular diseases, combining clinical and genomic data. The main questions it aims to answer are: Which genes are most commonly affected? What is the frequency of these genetic alterations in our population? Participants will be interviewed in routine medical care visits and their DNA will be ...
Published Date: January 18, 2023
Published By: National Institutes of Health