Barth Syndrome

Important
It is possible that the main title of the report Barth Syndromeis not the name you expected.

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
info@climb.org.uk
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
800: (888)663-4637
Askus@marchofdimes.com
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
info@umdf.org
http://www.umdf.org

Lactic Acidosis Support Trust
1A Whitley Close
Middlewich
Cheshire
CW10 0NQ
United Kingdom
Tel: 0160683719
Fax: 01606837198National Neutropenia Network
PO Box 1693
Brighton
MI
48116
USA
Tel: (810)229-5797
leereeves99@gmail.com
http://www.neutropenianet.org

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

National Transplant Assistance Fund (NTAF)
Suite 230
3475 West Chester Pike
Newtown Square
PA
19073
USA
Tel: (610)353-9684
Fax: (610)353-1616
800: (800)642-8399
NTAF@transplantfund.org
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
800: (800)874-6386
triointl@aol.com
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
nhlbiinfo@rover.nhlbi.nih.govAmerican Organ Transplant Association
PO Box 667566
Houston
TX
77266-7566
Tel: (281)996-8799
Fax: (413)803-9178
http://www.aotaonline.org

Neutropenia Support Association, Inc.
971 Corydon Avenue
Winnepeg
Manitoba
R3M 3S7
Canada
Tel: 2044898454
800: 8006638876
stevensl@neutropenia.ca
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
njohnso5@jhmi.edu
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
transweb@umich.edu
http://www.transweb.org

Cardiomyopathy Association
40 The Metro Centre
Tolpits Lane
Watford
Hertfordshire
Intl
WD1 8SB
United Kingdom
Tel: 01441923249977
Fax: 01441923249987
info@caridiomyopathy.org
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
800: (800)404-9500
care@longqt.org
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
info_cmdn@btopenworld.com
http://www.cmdn-mitonet.co.uk

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

Children's Cardiomyopathy Foundation (CCF)
PO Box 547
Tenafly
NJ
07670
USA
Tel: (866)808-2873
Fax: (201)227-7016
info@childrenscardiomyopathy.org
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: (920)336-5333
Fax: (920)339-0995
800: (877)336-5333
mums@netnet.net
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.

WebMD Medical Reference from the National Organization of Rare Disorders

Last Updated: September 17, 2007

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