Ventricular arrhythmia in the X-linked cardiomyopathy Barth syndrome.

Journal Article (Journal Article)

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.

Full Text

Duke Authors

Cited Authors

  • Spencer, CT; Byrne, BJ; Gewitz, MH; Wechsler, SB; Kao, AC; Gerstenfeld, EP; Merliss, AD; Carboni, MP; Bryant, RM

Published Date

  • 2005

Published In

Volume / Issue

  • 26 / 5

Start / End Page

  • 632 - 637

PubMed ID

  • 16235007

International Standard Serial Number (ISSN)

  • 0172-0643

Digital Object Identifier (DOI)

  • 10.1007/s00246-005-0873-z


  • eng

Conference Location

  • United States