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Ventricular arrhythmia in the X-linked cardiomyopathy Barth syndrome.
- Source :
-
Pediatric cardiology [Pediatr Cardiol] 2005 Sep-Oct; Vol. 26 (5), pp. 632-7. - Publication Year :
- 2005
-
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.
- Subjects :
- Acyltransferases
Adolescent
Child
Electrocardiography
Genetic Predisposition to Disease
Heart Arrest etiology
Heart Arrest therapy
Humans
Male
Mutation
Phenotype
Proteins genetics
Transcription Factors genetics
Cardiomyopathy, Dilated genetics
Cardiomyopathy, Dilated physiopathology
Cardiomyopathy, Dilated therapy
Defibrillators, Implantable
Genetic Diseases, X-Linked genetics
Genetic Diseases, X-Linked physiopathology
Genetic Diseases, X-Linked therapy
Tachycardia, Ventricular genetics
Tachycardia, Ventricular physiopathology
Tachycardia, Ventricular therapy
Ventricular Fibrillation genetics
Ventricular Fibrillation physiopathology
Ventricular Fibrillation therapy
Subjects
Details
- Language :
- English
- ISSN :
- 0172-0643
- Volume :
- 26
- Issue :
- 5
- Database :
- MEDLINE
- Journal :
- Pediatric cardiology
- Publication Type :
- Academic Journal
- Accession number :
- 16235007
- Full Text :
- https://doi.org/10.1007/s00246-005-0873-z