Barth syndrome

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Description from OMIM

Barth syndrome (BTHS) is an X-linked disease conventionally characterized by dilated cardiomyopathy (CMD) with endocardial fibroelastosis (EFE), a predominantly proximal skeletal myopathy, growth retardation, neutropenia, and organic aciduria, particularly excess of 3-methylglutaconic acid. Features of the disease that are less well known include hypertrophic cardiomyopathy, isolated left ventricular noncompaction (LVNC), ventricular arrhythmia, motor delay, poor appetite, fatigue and exercise intolerance, hypoglycemia, lactic acidosis, hyperammonemia, and dramatic late catch-up growth after growth delay throughout childhood (summary by Steward et al., 2010). For a phenotypic description and a discussion of genetic heterogeneity of 3-methylglutaconic aciduria, see MGCA type I (250950).



Prevalence of clinical parameters (%)







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Number of patients in the reference Percent affected patients (Between 0 and 1, eg. 0.1 = 10%)
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List of symptoms



Symptom/sign Organ system Percent affected Pubmed id Added on(yyyy-mm-dd) Edit/add reference
Cardiomyopathy circulatory 100 % 19648820 2013-07-09
Myopathy skeletal 100 % 19648820 2013-07-09
Short stature skeletal 100 % 19648820 2013-07-09
3-methylglutaconic aciduria circulatory 100 % 19648820 2013-07-09
Fatigue multi 100 % 16847078 2013-07-09
Muscle weakness skeletal 97 % 16847078 2013-07-09
Cardiomyopathy circulatory 95 % 23045169 2014-01-29
Cardiomyopathy circulatory 91 % 23656970 2013-11-14
Heart failure circulatory 91 % 23656970 2013-11-14
Cardiomyopathy circulatory 90 % 16847078 2013-07-09
Neutropenia circulatory 86 % 23656970 2013-11-14
Neutropenia circulatory 75 % 19648820 2013-07-09
Short stature skeletal 58 % 16847078 2013-07-09
Cardiac arrhythmia circulatory 58 % 16847078 2013-07-09
Dilated cardiomyopathy circulatory 54 % 23656970 2013-11-14
Hypertrophic cardiomyopathy circulatory 54 % 23656970 2013-11-14
Developmental delay nervous 50 % 23656970 2013-11-14
Short stature skeletal 50 % 23656970 2013-11-14
Weight loss multi 50 % 23656970 2013-11-14
Weight loss multi 44 % 16847078 2013-07-09
Ventricular arrythmia circulatory 44 % 16847078 2013-07-09
Failure to thrive multi 25 % 19648820 2013-07-09
Hypercholesterolemia circulatory 24 % 16847078 2013-07-09
Leukopenia circulatory 20 % 16847078 2013-07-09
Increased blood CK circulatory 15 % 16847078 2013-07-09
Decreased LDL circulatory 15 % 16847078 2013-07-09



List of references:


Dysmorphology of Barth syndrome.
Rob Hastings, Colin Steward, Beverly Tsai-Goodman, Ruth Newbury-Ecob,

Barth syndrome is an X-linked recessive condition caused by defective remodelling of cardiolipins in mitochondrial membranes because of mutations in the tafazzin (TAZ1/G4.5) gene located at Xq28. The cardinal features of Barth syndrome are cardiac and skeletal myopathy and neutropaenia, reported in the initial description of this condition by Barth et al. (J Neurol Sci 62:327-355) in 1983. Many features of the Barth phenotype have been described but there is no published comment on the facial appearance of these boys, which is consistent and characteristic of this condition.

Clinical dysmorphology - Oct 2009



Cardiac and clinical phenotype in Barth syndrome.
Carolyn T Spencer, Randall M Bryant, Jane Day, Iris L Gonzalez, Steven D Colan, W Reid Thompson, Julie Berthy, Sharon P Redfearn, Barry J Byrne,

Barth syndrome, an X-linked disorder that is characterized by cardiomyopathy, neutropenia, skeletal myopathy, and growth delay, is caused by mutations in the taffazin gene at Xq28 that result in cardiolipin deficiency and abnormal mitochondria. The clinical phenotype in Barth syndrome has not been characterized systematically, and the condition may be underrecognized. We sought to evaluate extent of cardioskeletal myopathy, potential for arrhythmia, delays in growth, and biochemical correlates of disease severity in patients with this disorder.

Pediatrics - Aug 2006



The Barth Syndrome Registry: distinguishing disease characteristics and growth data from a longitudinal study.
Amy E Roberts, Connie Nixon, Colin G Steward, Kimberly Gauvreau, Melissa Maisenbacher, Matthew Fletcher, Judith Geva, Barry J Byrne, Carolyn T Spencer,

Barth syndrome (BTHS); MIM accession # 302060) is a rare X-linked recessive cardioskeletal mitochondrial myopathy with features of cardiomyopathy, neutropenia, and growth abnormalities. The objectives of this study were to further elucidate the natural history, clinical disease presentation, and course, and describe growth characteristics for males with BTHS. Patients with a confirmed genetic diagnosis of BTHS are referred to the BTHS Registry through the Barth Syndrome Foundation, self-referral, or physician referral. This study is based on data obtained from 73 subjects alive at the time of enrollment that provided self-reported and/or medical record abstracted data. The mean age at diagnosis of BTHS was 4.04 ± 5.45 years. While the vast majority of subjects reported a history of cardiac dysfunction, nearly 6% denied any history of cardiomyopathy. Although most subjects had only mildly abnormal cardiac function by echocardiography reports, 70% were recognized as having cardiomyopathy in the first year of life and 12% have required cardiac transplantation. Of the 73 enrolled subjects, there have been five deaths. Growth curves were generated demonstrating a shift down for weight, length, and height versus the normative population with late catch up in height for a significant percentage of cases. This data also confirms a significant number of patients with low birth weight, complications in the newborn period, failure to thrive, neutropenia, developmental delay of motor milestones, and mild learning difficulties. However, it is apparent that the disease manifestations are variable, both over time for an individual patient and across the BTHS population.

American journal of medical genetics. Part A - Nov 2012



Natural history of Barth syndrome: a national cohort study of 22 patients.
Charlotte Rigaud, Anne-Sophie Lebre, Renaud Touraine, Blandine Beaupain, Chris Ottolenghi, Allel Chabli, Helene Ansquer, Hulya Ozsahin, Sylvie Di Filippo, Pascale De Lonlay, Betina Borm, Francois Rivier, Marie-Catherine Vaillant, Michèle Mathieu-Dramard, Alice Goldenberg, Géraldine Viot, Philippe Charron, Marlene Rio, Damien Bonnet, Jean Donadieu,

This study describes the natural history of Barth syndrome (BTHS).

Orphanet journal of rare diseases - May 2013