Diseases & Conditions


Barth Syndrome

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.

    Organizations related to Barth Syndrome
    • American Heart Association
      National Center
      Dallas TX 75231-4596
      Phone #: 214-373-6300
      800 #: 800-242-8721
      e-mail: [email protected]
      Home page: http://www.americanheart.org
    • American Organ Transplant Association
      PO Box 667566
      Houston TX 77266-7566
      Phone #: 281-996-8799
      800 #: --
      e-mail: N/A
      Home page: http://www.aotaonline.org
    • Barth Syndrome Foundation
      675 VFW Parkway #372
      Chestnut Hill MA 02467
      Phone #: 617-469-6769
      800 #: --
      e-mail: [email protected]
      Home page: http://www.barthsyndrome.org
    • CLIMB (Children Living with Inherited Metabolic Diseases)
      Climb Building
      Crewe Intl CW2 6BG
      Phone #: +44- 87-0 7700 325
      800 #: --
      e-mail: [email protected]
      Home page: http://www.CLIMB.org.uk
    • Cardiac Arrhythmias Research and Education Foundation, Inc.
      26425 NE Allen Street #103
      Duvall WA 98019
      Phone #: 425-788-1987
      800 #: 800-404-9500
      e-mail: [email protected]
      Home page: http://www.longqt.org/
    • Cardiomyopathy Association
      40 The Metro Centre
      Hertfordshire Intl WD1 8SB
      Phone #: 014-419-23249977
      800 #: --
      e-mail: [email protected]
      Home page: http://www.cardiomyopathy.org
    • Children's Cardiomyopathy Foundation (CCF)
      PO Box 547
      Tenafly NJ 07670
      Phone #: 866-808-2873
      800 #: --
      e-mail: [email protected]
      Home page: http://www.childrenscardiomyopathy.org
    • Children's European Mitochondrial Disease Network
      Mayfield House
      Northwich Intl CW9 5JB
      Phone #: 44 -0 1-606 43946
      800 #: --
      e-mail: [email protected]
      Home page: http://www.cmdn-mitonet.co.uk
    • Lactic Acidosis Support Trust
      1A Whitley Close
      Cheshire None CW10 0NQ
      Phone #: 016-068-3719
      800 #: --
      e-mail: N/A
      Home page: N/A
    • MUMS (Mothers United for Moral Support, Inc) National Parent-to-Parent Network
      150 Custer Court
      Green Bay WI 54301-1243
      Phone #: 920-336-5333
      800 #: 877-336-5333
      e-mail: [email protected]
      Home page: http://www.netnet.net/mums/
    • March of Dimes Birth Defects Foundation
      1275 Mamaroneck Avenue
      White Plains NY 10605
      Phone #: 914-428-7100
      800 #: 888-663-4637
      e-mail: [email protected]
      Home page: http://www.marchofdimes.com
    • Montgomery Heart Foundation for Cardiomyopathy
      1830 E. Monument St./Suite 7300
      Baltimore MD 21205
      Phone #: 402-502-2578
      800 #: --
      e-mail: [email protected]
      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: [email protected]
      Home page: N/A
    • National Neutropenia Network
      PO Box 1693
      Brighton MI 48116
      Phone #: 810-229-5797
      800 #: N/A
      e-mail: [email protected]
      Home page: http://www.neutropenianet.org
    • National Transplant Assistance Fund (NTAF)
      Suite 230
      Newtown Square PA 19073
      Phone #: 610-353-9684
      800 #: 800-642-8399
      e-mail: [email protected]
      Home page: http://www.transplantfund.org
    • Neutropenia Support Association, Inc.
      971 Corydon Avenue
      Manitoba None R3M 3S7
      Phone #: 204-489-8454
      800 #: 800-663-8876
      e-mail: [email protected]
      Home page: http://www.neutropenia.ca
    • TransWeb
      Northern Brewery Building
      Ann Arbor MI 48105
      Phone #: 734-998-7314
      800 #: --
      e-mail: [email protected]
      Home page: http://www.transweb.org
    • Transplant Recipients International Organization, Inc.
      2100 M Street NW
      Washington DC 20037-1233
      Phone #: 202-293-0980
      800 #: 800-874-6386
      e-mail: [email protected]
      Home page: http://www.trioweb.org
    • United Mitochondrial Disease Foundation
      8085 Saltsburg Road
      Pittsburgh PA 15239
      Phone #: 412-793-8077
      800 #: --
      e-mail: [email protected]
      Home page: http://www.umdf.org

    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