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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