Ventricular arrhythmia in the X-linked cardiomyopathy Barth syndrome.

Abstract

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.

• Authors: C T Spencer, B J Byrne, M H Gewitz, S B Wechsler, A C Kao, E P Gerstenfeld, A D Merliss, M P Carboni, R M Bryant
• Journal: Pediatric cardiology (Pediatr Cardiol) 2005 Sep-Oct Vol. 26 Issue 5 Pg. 632-7 ISSN: 0172-0643 [Print] United States
• PMID: 16235007 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Proteins
• Transcription Factors
• Acyltransferases
• TAFAZZIN protein, human

Topics

• Acyltransferases
• Adolescent
• Cardiomyopathy, Dilated (genetics, physiopathology, therapy)
• Child
• Defibrillators, Implantable
• Electrocardiography
• Genetic Diseases, X-Linked (genetics, physiopathology, therapy)
• Genetic Predisposition to Disease
• Heart Arrest (etiology, therapy)
• Humans
• Male
• Mutation
• Phenotype
• Proteins (genetics)
• Tachycardia, Ventricular (genetics, physiopathology, therapy)
• Transcription Factors (genetics)
• Ventricular Fibrillation (genetics, physiopathology, therapy)