Barth syndrome is an X-linked disorder characterized by dilated cardiomyopathy, cyclic neutropenia, skeletal myopathy, abnormal mitochondria, and growth deficiency. The primary defect is a mutation in the TAZ gene on the X chromosome at Xq28, resulting in abnormal phospholipid biosynthesis and cardiolipin deficiency. To date, there has been no systematic evaluation of the cardiac phenotype. We report five cases of cardiac arrest and/or placement of an internal cardiac defibrillator with documented ventricular arrhythmia. We suggest that ventricular arrhythmia is part of the primary phenotype of the disorder and that patients should be screened accordingly.
Cardiomyopathy Arrhythmia Barth syndrome
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We thank Iris Gonzalez, Ph.D., for the mutation analysis. We are also grateful to the families of these patients for their willingness to contribute. C.T.S. is a recipient of the Howard Hughes Medical Institutes Award for faculty development.
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