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    Barth Syndrome

    Important
    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

    • 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, CW2 6BG
    United Kingdom
    Tel: 4408452412173
    Fax: 4408452412174
    Email: enquiries@climb.org.uk
    Internet: http://www.CLIMB.org.uk

    March of Dimes Birth Defects Foundation
    1275 Mamaroneck Avenue
    White Plains, NY 10605
    Tel: (914)997-4488
    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: (412)793-8077
    Fax: (412)793-6477
    Tel: (888)317-8633
    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
    P.O. Box 1693
    Brighton, MI 48116
    USA
    Tel: (517)294-0736
    Email: leereeves99@gmail.com
    Internet: http://www.neutropenianet.org

    American Heart Association
    7272 Greenville Avenue
    Dallas, TX 75231
    Tel: (214)784-7212
    Fax: (214)784-1307
    Tel: (800)242-8721
    Email: Review.personal.info@heart.org
    Internet: http://www.heart.org

    National Transplant Assistance Fund
    150 N. Radnor Chester Road
    Suite F-120
    Radnor, PA 19087
    USA
    Tel: (610)353-9684
    Fax: (610)535-6106
    Tel: (800)642-8399
    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: (202)293-0980
    Tel: (800)874-6386
    Email: info@trioweb.org
    Internet: http://www.trioweb.org/index.shtml

    NIH/National Heart, Lung and Blood Institute
    P.O. Box 30105
    Bethesda, MD 20892-0105
    Tel: (301)592-8573
    Fax: (301)251-1223
    Email: nhlbiinfo@rover.nhlbi.nih.gov
    Internet: http://www.nhlbi.nih.gov/

    American Organ Transplant Association
    21175 Tomball Parkway
    194
    Houston, TX 77070
    Tel: (713)344-2402
    Fax: (713)344-9422
    Email: aotaonline@gmail.com
    Internet: http://www.aotaonline.org

    Neutropenia Support Association, Inc.
    971 Corydon Avenue
    P.O. Box 243
    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
    University of Michigan Transplant Center
    NIB Room #2C40
    300 North Ingalls Street, SPC 5451
    Ann Arbor, MI 48109-5451
    USA
    Tel: (734)232-1113
    Fax: (734)232-1111
    Email: transweb@umich.edu
    Internet: http://www.transweb.org/index.shtml

    Cardiomyopathy Association
    Chiltern Court, Unit 10
    Asheridge Rd Ind
    Chesham, HP5 2PX
    United Kingdom
    Tel: 4401494791224
    Fax: 4401494797199
    Tel: 08000181024
    Email: info@cardiomyopathy.org
    Internet: http://www.cardiomyopathy.org

    Cardiac Arrhythmias Research and Education Foundation, Inc. (C.A.R.E)
    427 Fulton Street
    P.O. Box 69
    Seymour, WI 54165
    USA
    Fax: (920)833-7005
    Tel: (800)404-9500
    Email: care@careforhearts.org
    Internet: http://www.longqt.org or http://www.careforhearts.org

    Children's Mitochondrial Disease Network
    Mayfield House
    30 Heber Walk
    Chester Way
    Northwich
    England, CW9 5JB
    United Kingdom
    Tel: 440160643946
    Fax: 440160643946
    Email: info@cmdn.org.uk
    Internet: http://www.emdn-mitonet.co.uk/

    Barth Syndrome Foundation
    P.O. Box 618
    Larchmont, NY 10538
    Tel: (850)223-1128
    Fax: (518)213-4061
    Email: bsfinfo@barthsyndrome.org
    Internet: http://www.barthsyndrome.org

    Children's Cardiomyopathy Foundation
    PO Box 547
    Tenafly, NJ 07670
    USA
    Tel: (866)808-2873
    Fax: (201)227-7016
    Email: info@childrenscardiomyopathy.org
    Internet: http://www.childrenscardiomyopathy.org

    Genetic and Rare Diseases (GARD) Information Center
    PO Box 8126
    Gaithersburg, MD 20898-8126
    Tel: (301)251-4925
    Fax: (301)251-4911
    Tel: (888)205-2311
    TDD: (888)205-3223
    Internet: http://rarediseases.info.nih.gov/GARD/

    MitoAction
    14 Pembroke Street
    Medford, MA 02155
    Tel: (888)648-6228
    Fax: (888)648-6228
    Email: info@mitoaction.org
    Internet: http://www.MitoAction.org

    For a Complete Report:

    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 orphan@rarediseases.org

    Last Updated: 9/17/2007
    Copyright 2000, 2006, 2007 National Organization for Rare Disorders, Inc.

    WebMD Medical Reference from the National Organization for Rare Disorders

    Last Updated: May 28, 2015
    This information is not intended to replace the advice of a doctor. Healthwise disclaims any liability for the decisions you make based on this information.

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