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Hypertrophic Cardiomyopathy Overview.


Cirino AL1, Ho C2.


GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2008 Aug 5 [updated 2014 Jan 16].

Author information

Genetic Counselor, Cardiovascular Genetics Center, Brigham and Women’s Hospital, Boston, Massachusetts
Medical Director, Cardiovascular Genetics Center, Brigham and Women’s Hospital, Boston, Massachusetts



Hypertrophic cardiomyopathy (HCM) is typically defined by the presence of unexplained left ventricular hypertrophy (LVH). Such LVH occurs in a non-dilated ventricle in the absence of other cardiac or systemic disease capable of producing the observed magnitude of increased LV wall thickness, such as pressure overload (e.g., long-standing hypertension, aortic stenosis) or storage/infiltrative disorders (e.g., Fabry disease, amyloidosis). The clinical manifestations of HCM range from asymptomatic LVH to progressive heart failure to sudden cardiac death (SCD), and vary from individual to individual even within the same family. Common symptoms include shortness of breath (particularly with exertion), chest pain, palpitations, orthostasis, presyncope, and syncope. Most often the LVH of HCM becomes apparent during adolescence or young adulthood, although it may also develop late in life, in infancy, or in childhood.


The diagnosis of HCM is most often established with noninvasive cardiac imaging, including echocardiography and/or cardiac magnetic resonance imaging (cardiac MRI). HCM can also be diagnosed by pathognomonic histopathologic findings in cardiac tissue, including myocyte disarray and fibrosis. Familial HCM without multisystem involvement can also be identified through family history and molecular genetic testing, focusing on genes that encode different components of the sarcomere.


Familial HCM caused by sarcomere gene pathogenic variants is inherited in an autosomal dominant manner.


Treatment of manifestations: Treatment by physicians experienced in diagnosis and management of persons with HCM improves survival and quality of life. Treatment modalities include pharmacologic therapy, invasive septal reduction therapy, and pacemakers or implantable cardiac defibrillators. Cardiac transplantation may be necessary for patients who progress to advanced heart failure refractory to medical or device therapy. Prevention of secondary complications: Anticoagulation should be initiated for affected individuals with persistent or paroxysmal atrial fibrillation to reduce the risk of thromboembolism; antibiotic prophylaxis for bacterial endocarditis should be considered on an individual basis. Surveillance: Assessment of risk for sudden cardiac death is an important component of clinical management. In individuals with HCM without risk factors for SCD, surveillance should be repeated at regular intervals to assess for change and guide decisions regarding the appropriateness of implantable cardioverter defibrillator (ICD) therapy. Agents/circumstances to avoid: Competitive endurance training, burst activities (e.g., sprinting), intense isometric exercise (e.g., heavy weight lifting), dehydration (i.e., use diuretics with caution), and medications that decrease afterload (e.g., ACE-inhibitors, angiotensin receptor blockers, and other direct vasodilators). Evaluation of relatives at risk: If the pathogenic variant has been identified in an affected family member, clarification of the genetic status of at-risk family members allows longitudinal evaluation for HCM to be focused on those who have inherited the pathogenic variant. If no pathogenic variant has been identified in an affected family member, longitudinal clinical evaluation for HCM is recommended for asymptomatic at-risk first degree relatives. Pregnancy management: Women with HCM require care by an experienced cardiologist and obstetrician trained in high-risk OB.

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