Health Library Barth SyndromeFrom Healthwise

National Organization for Rare Disorders, Inc.

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.

• 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

• None

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)
Climb Building
176 Nantwich Road
Crewe, Intl CW2 6BG
United Kingdom
Tel: +44 870 7700 325
Fax: +44 870 7700 327
Email: info@climb.org.uk
Internet: http://www.CLIMB.org.uk

March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
Tel: (914)428-7100
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: 4127938077
Fax: 4127936477
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
PO Box 1693
Brighton, MI 48116
USA
Tel: 8102295797
Email: leereeves99@gmail.com
Internet: http://www.neutropenianet.org

American Heart Association
National Center
7272 Greenville Avenue
Dallas, TX 75231-4596
Tel: (214)373-6300
Fax: (214)373-0268
Tel: (800)242-8721
Email: inquire@heart.org
Internet: http://www.americanheart.org

National Transplant Assistance Fund (NTAF)
Suite 230
3475 West Chester Pike
Newtown Square, PA 19073
USA
Tel: 6103539684
Fax: 6103531616
Tel: 8006428399
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: 2022930980
Fax: 2022930973
Tel: 8008746386
Email: triointl@aol.com
Internet: http://www.trioweb.org

NIH/National Heart, Lung and Blood Institute Information Center
P.O. Box 30105
Bethesda, MD 20824-0105
Tel: (301)592-8573
Fax: (301)251-1223
Email: nhlbiinfo@rover.nhlbi.nih.gov

American Organ Transplant Association
PO Box 667566
Houston, TX 77266-7566
Tel: (281)996-8799
Fax: (413)803-9178
Internet: http://www.aotaonline.org

Neutropenia Support Association, Inc.
971 Corydon Avenue
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
Northern Brewery Building
1327 Jones Drive
Suite 201
Ann Arbor, MI 48105
USA
Tel: 7349987314
Fax: 7349988333
Email: transweb@umich.edu
Internet: http://www.transweb.org

Cardiomyopathy Association
40 The Metro Centre
Tolpits Lane
Watford
Hertfordshire, Intl WD1 8SB
United Kingdom
Tel: 01441923249977
Fax: 01441923249987
Email: info@caridiomyopathy.org
Internet: http://www.cardiomyopathy.org

Cardiac Arrhythmias Research and Education Foundation, Inc.
26425 NE Allen Street #103
P.O. Box 369
Duvall, WA 98019
USA
Tel: 4257881987
Fax: 4257881927
Tel: 8004049500
Email: care@longqt.org
Internet: http://www.longqt.org/

Children's European Mitochondrial Disease Network
Mayfield House
30 Heber Walk
Chester Way
Northwich, Intl CW9 5JB
United Kingdom
Tel: 44 0 1606 43946
Fax: 44 0 1606 43946
Email: info_cmdn@btopenworld.com
Internet: http://www.cmdn-mitonet.co.uk

Barth Syndrome Foundation, Inc.
Box 974
Perry, FL 32348
Tel: (850)223-1128
Fax: (850)223-3911
Email: inquiries.rd@barthsyndrome.org
Internet: http://www.barthsyndrome.org

Children's Cardiomyopathy Foundation (CCF)
PO Box 547
Tenafly, NJ 07670
USA
Tel: 8668082873
Fax: 2012277016
Email: info@childrenscardiomyopathy.org
Internet: http://www.childrenscardiomyopathy.org

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

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.

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