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.
Synonyms Back to top
- 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 Back to top
General Discussion Back to top
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 Back to top
Children Living with Inherited Metabolic Diseases (CLIMB)
176 Nantwich Road
Crewe, Intl CW2 6BG
Tel: 0845 241 2174
Tel: 800 652 3181
March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
United Mitochondrial Disease Foundation
8085 Saltsburg Road
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
8200 Brookriver Drive
Dallas, TX 75247
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
Bucks, Intl HP5 2PX
Tel: +44 (0)1494 791224
Fax: +44 (0)1494 797199
Tel: 0800 018 1024
Cardiac Arrhythmias Research and Education Foundation, Inc. (C.A.R.E)
427 Fulton Street
P.O. Box 69
Seymour, WI 54165
Children's Mitochondrial Disease Network
30 Heber Walk
Northwich, Intl CW9 5JB
Tel: 44 0 1606 43946
Fax: 44 0 1606 43946
Barth Syndrome Foundation
P.O. Box 618
Larchmont, NY 10538
Children's Cardiomyopathy Foundation
PO Box 547
Tenafly, NJ 07670
MUMS National Parent-to-Parent Network
150 Custer Court
Green Bay, WI 54301-1243
Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
14 Pembroke Street
Medford, MA 02155
For a Complete Report Back to top
This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".
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 firstname.lastname@example.org
Last Updated: 9/17/2007
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