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Endocardial Fibroelastosis

Important
It is possible that the main title of the report Endocardial Fibroelastosis is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.

Synonyms

  • EFE
  • Endocardial Dysplasia
  • Fetal Endomyocardial Fibrosis
  • Subendocardial Sclerosis
  • Elastic tissue hyperplasia
  • Endocardial sclerosis

Disorder Subdivisions

  • None

General Discussion

Endocardial fibroelastosis (EFE) is a rare heart disorder that affects infants and children. It is characterized by a thickening within the muscular lining of the heart chambers due to an increase in the amount of supporting connective tissue (inelastic collagen) and elastic fibers. The normal heart has four chambers. Two chambers, known as atria, are separated from each other by a partition called the atrial septum. The other two chambers, known as ventricles, are also separated by a septum. Valves connect the atria (left and right) to their respective ventricles.

The symptoms of endocardial fibroelastosis are related to the overgrowth of fibrous tissues causing abnormal enlargement of the heart (cardiac hypertrophy), especially the left ventricle. Impaired heart and lung function eventually lead to congestive heart failure. Endocardial fibroelastosis may occur for no apparent reason (sporadic) or may be inherited as an X-linked (EFE2) or autosomal recessive (EFE1) genetic trait.

Resources

March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
Tel: (914)428-7100
Fax: (914)997-4763
Tel: (888)663-4637
Email: Askus@marchofdimes.com
Internet: http://www.marchofdimes.com

American Heart Association
National Center
7272 Greenville Avenue
Dallas, TX 75231-4596
Tel: (214)373-6300
Fax: (214)373-0268
Tel: (800)242-8721
Email: inquire@heart.org
Internet: http://www.americanheart.org

Congenital Heart Anomalies, Support, Education, & Resources
2112 North Wilkins Road
Swanton, OH 43558
Tel: (419)825-5575
Fax: (419)825-2880
Email: chaser@compuserve.com
Internet: http://www.csun.edu/~hcmth011/chaser/chaser-news.html

NIH/National Heart, Lung and Blood Institute
31 Center Drive MSC 2480
Building 31A Rm 4A16
Bethesda, MD 20892-2480
Tel: (301)592-8573
Fax: (240)629-3246
Email: nhlbiinfo@rover.nhlbi.nih.gov
Internet: http://www.nhlbi.nih.gov/

For a Complete Report:

This is an abstract of a report from the National Organization for Rare Disorders, Inc. ® (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html

The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.

It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report.

This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.

For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email orphan@rarediseases.org

Last Updated:  9/23/2007
Copyright  1986, 1988, 1995, 1999, 2004, 2007 National Organization for Rare Disorders, Inc.

WebMD Medical Reference from the National Organization of Rare Disorders

Last Updated: September 23, 2007
This information is not intended to replace the advice of a doctor. Healthwise disclaims any liability for the decisions you make based on this information.
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