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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

Children Living with Inherited Metabolic Diseases (CLIMB)
Climb Building
176 Nantwich Road
Crewe, Intl CW2 6BG
United Kingdom
Tel: 0845 241 2174
Tel: 800 652 3181
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
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
8200 Brookriver Drive
Suite N-100
Dallas, TX 75247
Tel: (214)784-7212
Fax: (214)784-1307
Tel: (800)242-8721
Email: Review.personal.info@heart.org
Internet: http://www.americanheart.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
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 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. (C.A.R.E)
427 Fulton Street
P.O. Box 69
Seymour, WI 54165
USA
Tel: (920)833-7000
Fax: (920)833-7005
Tel: (800)404-9500
Email: care@careforhearts.org
Internet: http://www.longqt.org

Children's 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
P.O. Box 618
Larchmont, NY 10538
Tel: (850)223-1128
Fax: (850)223-3911
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

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
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.

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