Barth Syndrome

Content provided by National Organization for Rare Disorders

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@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



MUMS (Mothers United for Moral Support, Inc) National Parent-to-Parent Network

150 Custer Court

Green Bay, WI 54301-1243

USA

Tel: 9203365333

Fax: 9203390995

Tel: 8773365333

Email: mums@netnet.net

Internet: http://www.netnet.net/mums/

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

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.

Last updated:	September 17, 2007