Ventricular arrhythmia in the X-linked cardiomyopathy Barth syndrome.

doi:10.1007/s00246-005-0873-z

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Ventricular arrhythmia in the X-linked cardiomyopathy Barth syndrome.

Pediatric cardiology - 1 Jan 2000

Spencer C T, Byrne B J, Gewitz M H, Wechsler S B, Kao A C, Gerstenfeld E P, Merliss A D, Carboni M P, Bryant R M

Abstract excerpt

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...

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