Important It is possible that the main title of the report Barth Syndromeis not the name you expected.
Synonyms
Cardioskeletal Myopathy, Barth Type
Cardioskeletal Myopathy With Neutropenia and Abnormal Mitochondria
Endocardial Fibroelastosis, Type 2 (EFE2)
3-Methylglutaconic Aciduria, Type II (MGA, Type II)
X-Linked Cardioskeletal Myopathy and Neutropenia
Disorder Subdivisions
None
General Discussion
Barth syndrome is a rare, metabolic, and neuromuscular, genetic disorder that occurs exclusively in males, since it is passed from mother to son through the X chromosome. Although Barth syndrome typically becomes apparent during infancy or early childhood, the age of onset, associated symptoms and findings, and disease course varies considerably, even among affected members of the same family (kindred). Primary characteristics of the disorder include abnormalities of heart and skeletal muscle (cardioskeletal myopathy); low levels of certain white blood cells (neutrophils, neutropenia) that help to fight bacterial infections, and growth retardation, potentially leading to short stature. The disorder is also associated with increased levels of certain organic acids in the urine and blood, such as 3-methylglutaconic aciduria/acidemia.
The left ventricle of the heart may show increased thickness as a result of unusually high concentrations of elastic, collagenous fibers (endocardial fibroelastosis). The thickening reduces the ability of the left ventricle to push blood though to the lungs and thus is the prime source of potential heart failure.
Barth syndrome is transmitted as an X-linked recessive trait. A gene responsible for the disorder has been located on the long arm (q) of chromosome X at Xq28.
Resources
CLIMB (Children Living with Inherited Metabolic Diseases) Climb Building 176 Nantwich Road Crewe, Intl CW2 6BG United Kingdom Tel: +44 870 7700 325 Fax: +44 870 7700 327 Email: info@climb.org.uk Internet: http://www.CLIMB.org.uk
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
United Mitochondrial Disease Foundation 8085 Saltsburg Road Suite 201 Pittsburgh, PA 15239 United States Tel: 4127938077 Fax: 4127936477 Email: info@umdf.org Internet: http://www.umdf.org
Lactic Acidosis Support Trust 1A Whitley Close Middlewich Cheshire, CW10 0NQ United Kingdom Tel: 0160683719 Fax: 01606837198
National Neutropenia Network PO Box 1693 Brighton, MI 48116 USA Tel: 8102295797 Email: leereeves99@gmail.com Internet: http://www.neutropenianet.org
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
National Transplant Assistance Fund (NTAF) Suite 230 3475 West Chester Pike Newtown Square, PA 19073 USA Tel: 6103539684 Fax: 6103531616 Tel: 8006428399 Email: NTAF@transplantfund.org Internet: http://www.transplantfund.org
Transplant Recipients International Organization, Inc. 2100 M Street NW 170-353 Washington, DC 20037-1233 USA Tel: 2022930980 Fax: 2022930973 Tel: 8008746386 Email: triointl@aol.com Internet: http://www.trioweb.org
NIH/National Heart, Lung and Blood Institute Information Center P.O. Box 30105 Bethesda, MD 20824-0105 Tel: (301)592-8573 Fax: (301)251-1223 Email: nhlbiinfo@rover.nhlbi.nih.gov
American Organ Transplant Association PO Box 667566 Houston, TX 77266-7566 Tel: (281)996-8799 Fax: (413)803-9178 Internet: http://www.aotaonline.org
Neutropenia Support Association, Inc. 971 Corydon Avenue Winnepeg Manitoba, R3M 3S7 Canada Tel: 2044898454 Tel: 8006638876 Email: stevensl@neutropenia.ca Internet: http://www.neutropenia.ca
Montgomery Heart Foundation for Cardiomyopathy 1830 E. Monument St./Suite 7300 Baltimore, MD 21205 Tel: (402)502-2578 Fax: (443)287-4109 Email: njohnso5@jhmi.edu Internet: http://www.hopkinsmedicine.org/cardiomyopathy/
TransWeb Northern Brewery Building 1327 Jones Drive Suite 201 Ann Arbor, MI 48105 USA Tel: 7349987314 Fax: 7349988333 Email: transweb@umich.edu Internet: http://www.transweb.org
Cardiomyopathy Association 40 The Metro Centre Tolpits Lane Watford Hertfordshire, Intl WD1 8SB United Kingdom Tel: 01441923249977 Fax: 01441923249987 Email: info@caridiomyopathy.org Internet: http://www.cardiomyopathy.org
Cardiac Arrhythmias Research and Education Foundation, Inc. 26425 NE Allen Street #103 P.O. Box 369 Duvall, WA 98019 USA Tel: 4257881987 Fax: 4257881927 Tel: 8004049500 Email: care@longqt.org Internet: http://www.longqt.org/
Children's European Mitochondrial Disease Network Mayfield House 30 Heber Walk Chester Way Northwich, Intl CW9 5JB United Kingdom Tel: 44 0 1606 43946 Fax: 44 0 1606 43946 Email: info_cmdn@btopenworld.com Internet: http://www.cmdn-mitonet.co.uk
Children's Cardiomyopathy Foundation (CCF) PO Box 547 Tenafly, NJ 07670 USA Tel: 8668082873 Fax: 2012277016 Email: info@childrenscardiomyopathy.org Internet: http://www.childrenscardiomyopathy.org
MUMS (Mothers United for Moral Support, Inc) National Parent-to-Parent Network 150 Custer Court Green Bay, WI 54301-1243 USA Tel: 9203365333 Fax: 9203390995 Tel: 8773365333 Email: mums@netnet.net Internet: http://www.netnet.net/mums/
For a Complete Report
This is an abstract of a report from the National Organization for Rare Disorders, Inc. (r) (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
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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.
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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: 9/17/2007 Copyright 2000, 2006, 2007National Organization for Rare Disorders, Inc.
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