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Disease Profile
Familial hypertrophic cardiomyopathy
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
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Age of onset
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ICD-10
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Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
Cardiomyopathy familial hypertrophic; Heritable hypertrophic cardiomyopathy; Familial HCM
Categories
Heart Diseases
Summary
Cause
The genes known to be responsible for familial HCM give the body instructions to make
While it is unclear exactly how mutations in these genes cause familial HCM, they are thought to lead to abnormal structure or function of sarcomeres, or reduce the amount of proteins made. When the function of sarcomeres is impaired, normal heart muscle contractions are disrupted.[1]
Diagnosis
The Genetic Testing Registry (GTR) provides information about the genetic tests for familial HCM. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
As is often the case with genetic testing in general, there are benefits and limitations of genetic testing for familial HCM. Testing may confirm the diagnosis in a person with symptoms, and may help to identify family members at risk. However, results are sometimes unclear; testing cannot detect all mutations; and results cannot be used to predict whether a person will develop symptoms, age of onset, or long-term outlook (
Testing Resources
- Genetic Evaluation of Cardiomyopathy A Heart Failure Society of America practice guideline.
Hershberger, et.al. Journal of Cardiac Failure; 15:83-97
Treatment
FDA-Approved Treatments
The medication(s) listed below have been approved by the Food and Drug Administration (FDA) as orphan products for treatment of this condition. Learn more orphan products.
- Dehydrated alcohol(Brand name: Ablysinol) Manufactured by Belcher Pharmaceuticals, LLC
FDA-approved indication: June 2018 approved to induce controlled cardiac septal infarction to improve exercise capacity in adults with symptomatic hypertrophic obstructivecardiomyopathy who are not candidates for surgical myectomy.
Organizations
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Organizations Supporting this Disease
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Heart Failure Society of America (HFSA)
6707 Democracy Blvd. Suite 925
Bethesda, MD 20817
Toll-free: 888-213-4417
Telephone: 301-312-8635
E-mail: [email protected]
Website: https://www.hfsa.org/ -
Heart Rhythm Society
1400 K Street, NW
Suite 500
Washington, DC, DC 20005
Telephone: 202-464-3400
Fax: 202-464-3401
E-mail: [email protected]
Website: https://www.hrsonline.org/ -
Hypertrophic Cardiomyopathy Association (HCMA)
18 East Main St.
Suite 202
Denville, NJ 07834
Telephone: 973-983-7429
Fax: 973-983-7870
E-mail: [email protected]
Website: https://www.4hcm.org
Organizations Providing General Support
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American Heart Association
7272 Greenville Avenue
Dallas, TX 75231-4596
Toll-free: 800-242-8721
Telephone: 214-570-5978
E-mail: https://www.heart.org/en/forms/general-questions-and-latest-research-information
Website: https://www.heart.org -
The Children's Heart Foundation
5 Revere Drive
One Northbrook Place
Suite 200
Northbrook, IL 60062-1500
Telephone: +1-847-634-6474
E-mail: [email protected]
Website: https://www.childrensheartfoundation.org/
Learn more
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
Where to Start
- 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.
- The Mayo Clinic Web site provides further information on Familial hypertrophic cardiomyopathy.
- Genetics Home Reference (GHR) contains information on Familial hypertrophic cardiomyopathy. This website is maintained by the National Library of Medicine.
In-Depth Information
- GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
- 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) lists the subtypes and associated genes for Familial hypertrophic cardiomyopathy in a table called Phenotypic Series. Each entry in OMIM includes 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.
- 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
- Identification and Treatment of Sudden Death Conditions in Young Patients. A presentation by David Bradley, M.D., Director, Pediatric Heart Rhythm Service, CS Mott Children's Hospital. Assoicate Professor, Department of Pediatrics and Communicable Diseases, University of Michigan.
References
- Familial hypertrophic cardiomyopathy. Genetics Home Reference. August, 2015; https://ghr.nlm.nih.gov/condition/familial-hypertrophic-cardiomyopathy.
- Hypertrophic cardiomyopathy. Mayo Clinic. October, 2016; https://www.mayoclinic.org/diseases-conditions/hypertrophic-cardiomyopathy/home/ovc-20122102.
- Allison L Cirino and Carolyn Ho. Hypertrophic Cardiomyopathy Overview. GeneReviews. January 16, 2014; https://www.ncbi.nlm.nih.gov/books/NBK1768/.
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