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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