Spencer et al listed clinical features of Barth Syndrome (BTHS). The authors are from the University of Florida Gainesville, Alfred I DuPoint Hospital for Children in Wilmington, Children's Hospital Boston and the Johns Hopkins University.
Inheritance: X-linked (defect in taffazin gene at Xq28)
Genetic defect: cardiolipin deficiency, with abnormal mitochondrial function
Key phenotypic findings:
(1) affects boys with onset during infancy or childhood
(2) cardiomyopathy, typically with left ventricular trabeculations
(3) neutropenia
(4) skeletal myopathy with weakness and easy fatigability
(5) growth delay
Additional findings:
(1) reduced left ventricular ejection fraction
(2) ventricular arrhythmias
(3) hypocholesterolemia
(4) 3-methylglutaconic aciduria
(5) recurrent infections
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