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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

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.

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