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Copyright 2000, 2006, 2007
Synonyms of Barth Syndrome
- 3-Methylglutaconic Aciduria, Type II (MGA, Type II)
- Cardioskeletal Myopathy, Barth Type
- Cardioskeletal Myopathy With Neutropenia and Abnormal Mitochondria
- Endocardial Fibroelastosis, Type 2 (EFE2)
- X-Linked Cardioskeletal Myopathy and Neutropenia
Disorder Subdivisions
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.
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Organizations related to Barth Syndrome
- American Heart Association
7272 Greenville Avenue
Dallas TX 75231-4596
Phone #: 214-373-6300
800 #: 800-242-8721
e-mail: Review.personal.info@heart.org
Home page: http://www.americanheart.org
- American Organ Transplant Association
21175 Tomball Parkway #194
Houston TX 77070
Phone #: 713-344-2402
800 #: --
e-mail: N/A
Home page: http://www.aotaonline.org
- Barth Syndrome Foundation
P.O. Box 618
Larchmont NY 10538
Phone #: 850-223-1128
800 #: --
e-mail: bsfinfo@barthsyndrome.org
Home page: http://www.barthsyndrome.org
- CLIMB (Children Living with Inherited Metabolic Diseases)
Climb Building
176 Nantwich Road
Crewe Intl CW2 6BG
Phone #: 084-5 2-41 2174
800 #: 080-0 6-52 3181
e-mail: info.svcs@climb.org.uk
Home page: http://www.CLIMB.org.uk
- Cardiac Arrhythmias Research and Education Foundation, Inc. (C.A.R.E)
427 Fulton Street
P.O. Box 69
Seymour WI 54165
Phone #: 920-833-7000
800 #: 800-404-9500
e-mail: care@careforhearts.org
Home page: http://www.longqt.org
- Cardiomyopathy Association
Chiltern Court, Unit 10
Asheridge Road
Chesham
Bucks Intl HP5 2PX
Phone #: +44- (0-)1494 791224
800 #: 080-0 0-18 1024
e-mail: info@caridiomyopathy.org
Home page: http://www.cardiomyopathy.org
- Children's Cardiomyopathy Foundation (CCF)
PO Box 547
Tenafly NJ 07670
Phone #: 866-808-2873
800 #: --
e-mail: info@childrenscardiomyopathy.org
Home page: http://www.childrenscardiomyopathy.org
- Children's Mitochondrial Disease Network
Mayfield House
30 Heber Walk
Chester Way
Northwich Intl CW9 5JB
Phone #: 44 -0 1-606 43946
800 #: --
e-mail: info@cmdn.org.uk
Home page: http://www.emdn-mitonet.co.uk/
- Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg MD 20898-8126
Phone #: 301-251-4925
800 #: 888-205-2311
e-mail: http://rarediseases.info.nih.gov/GARD/EmailForm.aspx
Home page: http://rarediseases.info.nih.gov/GARD
- Lactic Acidosis Support Trust
1A Whitley Close
Middlewich
Cheshire None CW10 0NQ
Phone #: 016-068-3719
800 #: --
e-mail: N/A
Home page: N/A
- MUMS National Parent-to-Parent Network
150 Custer Court
Green Bay WI 54301-1243
Phone #: 920-336-5333
800 #: 877-336-5333
e-mail: mums@netnet.net
Home page: http://www.netnet.net/mums/
- March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains NY 10605
Phone #: 914-997-4488
800 #: 888-663-4637
e-mail: Askus@marchofdimes.com
Home page: http://www.marchofdimes.com
- MitoAction
14 Pembroke Street
Medford MA 02155
Phone #: 888-648-6228
800 #: N/A
e-mail: info@mitoaction.org
Home page: http://www.MitoAction.org
- Montgomery Heart Foundation for Cardiomyopathy
1830 E. Monument St./Suite 7300
Baltimore MD 21205
Phone #: 402-502-2578
800 #: --
e-mail: njohnso5@jhmi.edu
Home page: http://www.hopkinsmedicine.org/cardiomyopathy/
- NIH/National Heart, Lung and Blood Institute Information Center
P.O. Box 30105
Bethesda MD 20824-0105
Phone #: 301-592-8573
800 #: --
e-mail: nhlbiinfo@rover.nhlbi.nih.gov
Home page: N/A
- National Neutropenia Network
PO Box 1693
Brighton MI 48116
Phone #: 810-229-5797
800 #: N/A
e-mail: leereeves99@gmail.com
Home page: http://www.neutropenianet.org
- National Transplant Assistance Fund (NTAF)
150 N. Radnor Chester Road
Suite F-120
Radnor PA 19087
Phone #: 610-353-9684
800 #: 800-642-8399
e-mail: NTAF@transplantfund.org
Home page: http://www.transplantfund.org
- Neutropenia Support Association, Inc.
971 Corydon Avenue
P.O. Box 243
Winnepeg
Manitoba None R3M 3S7
Phone #: 204-489-8454
800 #: 800-663-8876
e-mail: stevensl@neutropenia.ca
Home page: http://www.neutropenia.ca
- TransWeb
Northern Brewery Building
1327 Jones Drive
Suite 201
Ann Arbor MI 48105
Phone #: 734-998-7314
800 #: --
e-mail: transweb@umich.edu
Home page: http://www.transweb.org
- Transplant Recipients International Organization, Inc.
2100 M Street NW
170-353
Washington DC 20037-1233
Phone #: 202-293-0980
800 #: 800-874-6386
e-mail: triointl@aol.com
Home page: http://www.trioweb.org
- United Mitochondrial Disease Foundation (UMDF)
8085 Saltsburg Road
Suite 201
Pittsburgh PA 15239
Phone #: 412-793-8077
800 #: 888-317-8633
e-mail: info@umdf.org
Home page: http://www.umdf.org
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