Barth Syndrome

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.

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, Intl CW2 6BG
United Kingdom
Tel: +44 870 7700 325
Fax: +44 870 7700 327
Email: info.svcs@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 (UMDF)
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
PO Box 1693
Brighton, MI 48116
USA
Tel: (810)229-5797
Email: leereeves99@gmail.com
Internet: http://www.neutropenianet.org

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

National Transplant Assistance Fund (NTAF)
150 N. Radnor Chester Road
Suite F-120
Radnor, PA 19087
USA
Tel: (610)353-9684
Fax: (610)353-1616
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
Fax: (202)293-0973
Tel: (800)874-6386
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
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
Northern Brewery Building
1327 Jones Drive
Suite 201
Ann Arbor, MI 48105
USA
Tel: (734)998-7314
Fax: (734)998-8333
Email: transweb@umich.edu
Internet: http://www.transweb.org

Cardiomyopathy Association
Chiltern Court, Unit 10
Asheridge Road
Chesham
Bucks, Intl HP5 2PX
United Kingdom
Tel: +44 (0)1494 791224
Fax: +44 (0)1494 797199
Tel: 0800 018 1024
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: (425)788-1987
Fax: (425)788-1927
Tel: (800)404-9500
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.org.uk
Internet: http://www.emdn-mitonet.co.uk/

Barth Syndrome Foundation
675 VFW Parkway #372
Chestnut Hill, MA 02467
Tel: (617)469-6769
Fax: (617)849-5695
Email: bsfinfo@barthsyndrome.org
Internet: http://www.barthsyndrome.org

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

MUMS National Parent-to-Parent Network
150 Custer Court
Green Bay, WI 54301-1243
USA
Tel: (920)336-5333
Fax: (920)339-0995
Tel: (877)336-5333
Email: mums@netnet.net
Internet: http://www.netnet.net/mums/

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
Email: ordr@od.nih.gov
Internet: http://rarediseases.info.nih.gov/Default.aspx

For a Complete Report

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

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