National Organization for Rare Disorders, Inc.
It is possible that the main title of the report Barth Syndrome 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.
- 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
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.
CLIMB (Children Living with Inherited Metabolic Diseases)
176 Nantwich Road
Crewe, CW2 6BG
March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
United Mitochondrial Disease Foundation
8085 Saltsburg Road Suite 201
Pittsburgh, PA 15239
Lactic Acidosis Support Trust
1A Whitley Close
Cheshire, CW10 0NQ
National Neutropenia Network
P.O. Box 1693
Brighton, MI 48116
American Heart Association
7272 Greenville Avenue
Dallas, TX 75231
National Transplant Assistance Fund
150 N. Radnor Chester Road
Radnor, PA 19087
Transplant Recipients International Organization, Inc.
2100 M Street NW 170-353
Washington, DC 20037-1233
NIH/National Heart, Lung and Blood Institute
P.O. Box 30105
Bethesda, MD 20892-0105
American Organ Transplant Association
21175 Tomball Parkway
Houston, TX 77070
Neutropenia Support Association, Inc.
971 Corydon Avenue
P.O. Box 243
Manitoba, R3M 3S7
Montgomery Heart Foundation for Cardiomyopathy
1830 E. Monument St./Suite 7300
Baltimore, MD 21205
University of Michigan Transplant Center
NIB Room #2C40
300 North Ingalls Street, SPC 5451
Ann Arbor, MI 48109-5451
Chiltern Court, Unit 10
Asheridge Rd Ind
Chesham, HP5 2PX
Cardiac Arrhythmias Research and Education Foundation, Inc. (C.A.R.E)
427 Fulton Street
P.O. Box 69
Seymour, WI 54165
Internet: http://www.longqt.org or http://www.careforhearts.org
Children's Mitochondrial Disease Network
30 Heber Walk
England, CW9 5JB
Barth Syndrome Foundation
P.O. Box 618
Larchmont, NY 10538
Children's Cardiomyopathy Foundation
PO Box 547
Tenafly, NJ 07670
Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
14 Pembroke Street
Medford, MA 02155
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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
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.
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Last Updated: 9/17/2007
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