Barth syndrome

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:

Barth syndrome
OMIM 302060
DiseasesDB 29297


Barth syndrome (BTHS), also known as 3-Methylglutaconic aciduria type II and Cardiomyopathy-neutropenia syndrome is a rare genetic disorder classified by many signs and symptoms, including metabolism distortion, delayed motor skills, stamina deficiency, hypotonia, chronic fatigue, delayed growth, cardiomyopathy, and compromised immune system.

Historical Perspective




Mutations in the BTHS gene are associated with cardiolipin molecules in the electron transport chain and the mitochondrial membrane structure. The gene is 6,234 bases in length, mRNA of 879 nucleotides, 11 exons/10 introns, and amino acid sequence of 292 with a weight of 33.5 kDa. It is located at Xq28; the long arm of the X chromosome. Barth Syndrome is caused by 60% frameshift, stop, or splice-site alterations and 30% change in protein's charge.

Differentiating Barth syndrome from Other Diseases

Epidemiology and Demographics

It affects at least one hundred families worldwide. Family members of the Barth Syndrome Foundation and its affiliates live in the US, Canada, the UK, Europe, Japan, South Africa, Kuwait, Australia. The syndrome is believed to be severely under-diagnosed and estimated to occur in 1 out of approximately 200,000 births.

The Syndrome was named after Dr. Peter Barth in the Netherlands for his research and discovery in 1983. He described a pedigree chart, showing that this is an inherited trait.

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Laboratory Findings

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AHA Scientific Statement: Management of Cardiac Involvement Associated With Neuromuscular Diseases

Cardiac Evaluation in Barth syndrome (BTHS)

Class I
"1. Boys should be referred to pediatric cardiol- ogy at the time of BTHS diagnosis. (Level of Evidence: B) "
"2. At least annual cardiology assessment with examination, ECG, echocardiogram, and ambulatory ECG should be performed in boys with BTHS who have evidence of cardiac dys- function or HF. (Level of Evidence: B) "
Class IIa
"1. Screening of asymptomatic infants with BTHS by examination, ECG, and echocardiogram every 6 months and ambulatory elec- trocardiographic monitoring every year is reasonable. (Level of Evidence: C) "
"2. It is reasonable to screen asymptomatic boys with BTHS with examination, ECG, echo- cardiogram, and ambulatory electrocardio- graphic monitoring annually. (Level of Evidence: C) "


Medical Therapy



Barth Syndrome Foundation

The Barth Syndrome Foundation in the US sponsors International Conferences for affected families attending physicians and scientists every two years. The next BSF Conference is presently in the planning stages for summer or fall of 2008. For more information contact the Barth Syndrome Foundation, Inc. at

See slso

External links


nl:Syndroom van Barth sr:Бартов синдром

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