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Diseases

Genetic and Rare Diseases Information Center (GARD)

Familial hypertrophic cardiomyopathy


Other Names for this Disease
  • Asymmetric septal hypertrophy
  • Hereditary ventricular hypertrophy
  • Idiopathic hypertrophic subaortic stenosis
  • Cardiomyopathy familial hypertrophic
  • Heritable hypertrophic cardiomyopathy
Related Diseases
  • Myosinopathies
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

Familial hypertrophic cardiomyopathy (HCM) is an inherited heart condition characterized by thickening of the heart muscle. The thickening most often occurs in the muscle wall that separates the left and right ventricles from each other (interventricular septum). This may restrict the flow of oxygen-rich blood from the heart, or it may lead to less efficient pumping of blood. Signs and symptoms can vary. While some people have no symptoms, others may have chest pain, shortness of breath, palpitations, lightheadedness, dizziness, and/or fainting. Even in the absence of symptoms, familial HCM can have serious consequences such as life-threatening arrhythmias, heart failure, and an increased risk of sudden death. Familial HCM may be caused by mutations in any of several genes and is typically inherited in an autosomal dominant manner.[1] Treatment may depend on severity of symptoms and may include medications, surgical procedures, and/or an implantable cardioverter-defibrillator (ICD).[2]
Last updated: 11/30/2015

References

  1. Familial hypertrophic cardiomyopathy. Genetics Home Reference. August, 2015; http://ghr.nlm.nih.gov/condition/familial-hypertrophic-cardiomyopathy.
  2. Hypertrophic cardiomyopathy. Mayo Clinic. February 18, 2015; http://www.mayoclinic.org/diseases-conditions/hypertrophic-cardiomyopathy/home/ovc-20122102.
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Basic Information

  • The American Heart Association has an information page on Familial hypertrophic cardiomyopathy. The American Heart Association is the nation’s oldest and largest voluntary organization dedicated to fighting heart disease and stroke.
  • Genetics Home Reference (GHR) contains information on Familial hypertrophic cardiomyopathy. This website is maintained by the National Library of Medicine.
  • The Mayo Clinic Web site provides further information on Familial hypertrophic cardiomyopathy.

In Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Familial hypertrophic cardiomyopathy. Click on the link to view a sample search on this topic.

Videos/Presentations

Other Names for this Disease
  • Asymmetric septal hypertrophy
  • Hereditary ventricular hypertrophy
  • Idiopathic hypertrophic subaortic stenosis
  • Cardiomyopathy familial hypertrophic
  • Heritable hypertrophic cardiomyopathy
Related Diseases
  • Myosinopathies
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.