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Genetics Home Reference: your guide to understanding genetic conditions
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Familial restrictive cardiomyopathy

Reviewed January 2011

What is familial restrictive cardiomyopathy?

Familial restrictive cardiomyopathy is a genetic form of heart disease. For the heart to beat normally, the heart (cardiac) muscle must contract and relax in a coordinated way. Oxygen-rich blood from the lungs travels first through the upper chambers of the heart (the atria), and then to the lower chambers of the heart (the ventricles).

In people with familial restrictive cardiomyopathy, the heart muscle is stiff and cannot fully relax after each contraction. Impaired muscle relaxation causes blood to back up in the atria and lungs, which reduces the amount of blood in the ventricles.

Familial restrictive cardiomyopathy can appear anytime from childhood to adulthood. The first signs and symptoms of this condition in children are failure to gain weight and grow at the expected rate (failure to thrive), extreme tiredness (fatigue), and fainting. Children who are severely affected may also have abnormal swelling or puffiness (edema), increased blood pressure, an enlarged liver, an abnormal buildup of fluid in the abdominal cavity (ascites), and lung congestion. Some children with familial restrictive cardiomyopathy do not have any obvious signs or symptoms, but they may die suddenly due to heart failure. Without treatment, the majority of affected children survive only a few years after they are diagnosed.

Adults with familial restrictive cardiomyopathy typically first develop shortness of breath, fatigue, and a reduced ability to exercise. Some individuals have an irregular heart beat (arrhythmia) and may also experience a sensation of fluttering or pounding in the chest (palpitations) and dizziness. Abnormal blood clots are commonly seen in adults with this condition. Without treatment, approximately one-third of adults with familial restrictive cardiomyopathy do not survive more than five years after diagnosis.

How common is familial restrictive cardiomyopathy?

The prevalence of familial restrictive cardiomyopathy is unknown. Although cardiomyopathy is a relatively common condition, restrictive cardiomyopathy, in which relaxation of the heart muscle is impaired, is the least common type. Some other forms of cardiomyopathy involve a weak or enlarged heart muscle with impaired contraction. In the United States and in Europe, restrictive cardiomyopathy accounts for less than five percent of all cardiomyopathies. The proportion of restrictive cardiomyopathy that runs in families is not known.

What genes are related to familial restrictive cardiomyopathy?

Mutations in several genes have been found to cause familial restrictive cardiomyopathy. Mutations in the TNNI3 gene are one of the major causes of this condition. The TNNI3 gene provides instructions for making a protein called cardiac troponin I, which is found solely in the heart. Cardiac troponin I is one of three proteins that make up the troponin protein complex, which helps regulate tensing (contraction) and relaxation of the heart muscle.

TNNI3 gene mutations associated with familial restrictive cardiomyopathy result in the production of a defective cardiac troponin I protein. The altered protein disrupts the function of the troponin protein complex and does not allow the heart muscle to fully relax. As a result, not enough blood enters the ventricles, leading to a buildup in the atria and lungs. The abnormal heart relaxation and blood flow is responsible for many of the signs and symptoms of familial restrictive cardiomyopathy.

Mutations in other genes associated with familial restrictive cardiomyopathy each account for a small percentage of cases of this condition. Some people with familial restrictive cardiomyopathy do not have an identified mutation in any of the known associated genes. The cause of the disorder in these individuals is unknown.

Related Gene(s)

Changes in these genes are associated with familial restrictive cardiomyopathy.

  • ACTC1
  • MYH7
  • TNNI3
  • TNNT2

How do people inherit familial restrictive cardiomyopathy?

This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.

In some cases, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family.

Where can I find information about diagnosis or management of familial restrictive cardiomyopathy?

These resources address the diagnosis or management of familial restrictive cardiomyopathy and may include treatment providers.

  • Genetic Testing Registry: Familial restrictive cardiomyopathy (http://www.ncbi.nlm.nih.gov/gtr/conditions/C0340429)
  • Genetic Testing Registry: Familial restrictive cardiomyopathy 1 (http://www.ncbi.nlm.nih.gov/gtr/conditions/C1861861)
  • Genetic Testing Registry: Familial restrictive cardiomyopathy 2 (http://www.ncbi.nlm.nih.gov/gtr/conditions/C1865071)
  • Genetic Testing Registry: Familial restrictive cardiomyopathy 3 (http://www.ncbi.nlm.nih.gov/gtr/conditions/C2676271)
  • Johns Hopkins Medicine: Cardiomyopathy/Heart Failure (http://www.hopkinsmedicine.org/heart_vascular_institute/conditions_treatments/conditions/cardiomyopathy.html)
  • MedlinePlus Encyclopedia: Restrictive Cardiomyopathy (http://www.nlm.nih.gov/medlineplus/ency/article/000189.htm)

You might also find information on the diagnosis or management of familial restrictive cardiomyopathy in Educational resources (http://www.ghr.nlm.nih.gov/condition/familial-restrictive-cardiomyopathy/show/Educational+resources) and Patient support (http://www.ghr.nlm.nih.gov/condition/familial-restrictive-cardiomyopathy/show/Patient+support).

General information about the diagnosis (http://ghr.nlm.nih.gov/handbook/consult/diagnosis) and management (http://ghr.nlm.nih.gov/handbook/consult/treatment) of genetic conditions is available in the Handbook. Read more about genetic testing (http://ghr.nlm.nih.gov/handbook/testing), particularly the difference between clinical tests and research tests (http://ghr.nlm.nih.gov/handbook/testing/researchtesting).

To locate a healthcare provider, see How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

Where can I find additional information about familial restrictive cardiomyopathy?

You may find the following resources about familial restrictive cardiomyopathy helpful. These materials are written for the general public.

You may also be interested in these resources, which are designed for healthcare professionals and researchers.

What other names do people use for familial restrictive cardiomyopathy?

  • cardiomyopathy, restrictive
  • RCM

For more information about naming genetic conditions, see the Genetics Home Reference Condition Naming Guidelines (http://ghr.nlm.nih.gov/ConditionNameGuide) and How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What if I still have specific questions about familial restrictive cardiomyopathy?

Ask the Genetic and Rare Diseases Information Center (http://rarediseases.info.nih.gov/GARD/).

What glossary definitions help with understanding familial restrictive cardiomyopathy?

arrhythmia ; ascites ; autosomal ; autosomal dominant ; cardiac ; cardiomyopathy ; cell ; contraction ; diagnosis ; edema ; failure to thrive ; fainting ; familial ; gene ; heart failure ; inherited ; mutation ; oxygen ; palpitations ; prevalence ; protein

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

  • Elliott P, Andersson B, Arbustini E, Bilinska Z, Cecchi F, Charron P, Dubourg O, Kühl U, Maisch B, McKenna WJ, Monserrat L, Pankuweit S, Rapezzi C, Seferovic P, Tavazzi L, Keren A. Classification of the cardiomyopathies: a position statement from the European Society Of Cardiology Working Group on Myocardial and Pericardial Diseases. Eur Heart J. 2008 Jan;29(2):270-6. Epub 2007 Oct 4. (http://www.ncbi.nlm.nih.gov/pubmed/17916581?dopt=Abstract)
  • Kaski JP, Syrris P, Burch M, Tomé-Esteban MT, Fenton M, Christiansen M, Andersen PS, Sebire N, Ashworth M, Deanfield JE, McKenna WJ, Elliott PM. Idiopathic restrictive cardiomyopathy in children is caused by mutations in cardiac sarcomere protein genes. Heart. 2008 Nov;94(11):1478-84. doi: 10.1136/hrt.2007.134684. Epub 2008 May 8. (http://www.ncbi.nlm.nih.gov/pubmed/18467357?dopt=Abstract)
  • Mogensen J, Arbustini E. Restrictive cardiomyopathy. Curr Opin Cardiol. 2009 May;24(3):214-20. Review. (http://www.ncbi.nlm.nih.gov/pubmed/19593902?dopt=Abstract)
  • Nihoyannopoulos P, Dawson D. Restrictive cardiomyopathies. Eur J Echocardiogr. 2009 Dec;10(8):iii23-33. doi: 10.1093/ejechocard/jep156. Review. (http://www.ncbi.nlm.nih.gov/pubmed/19889655?dopt=Abstract)
  • Sen-Chowdhry S, Syrris P, McKenna WJ. Genetics of restrictive cardiomyopathy. Heart Fail Clin. 2010 Apr;6(2):179-86. doi: 10.1016/j.hfc.2009.11.005. Review. (http://www.ncbi.nlm.nih.gov/pubmed/20347786?dopt=Abstract)
  • Xu Q, Dewey S, Nguyen S, Gomes AV. Malignant and benign mutations in familial cardiomyopathies: insights into mutations linked to complex cardiovascular phenotypes. J Mol Cell Cardiol. 2010 May;48(5):899-909. doi: 10.1016/j.yjmcc.2010.03.005. Epub 2010 Mar 16. Review. (http://www.ncbi.nlm.nih.gov/pubmed/20298698?dopt=Abstract)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: January 2011
Published: August 18, 2014