title: 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.affiliation: Department of Pediatrics, Division of Cardiology, University of Florida, 1600 SW Archer Rd HD 303, Gainesville, FL 32610, USA. cspencer@pedcard.ufl.edu
authors.forename: C T
authors.initials: CT
authors.lastname: Spencer
authors.forename: B J
authors.initials: BJ
authors.lastname: Byrne
authors.forename: M H
authors.initials: MH
authors.lastname: Gewitz
authors.forename: S B
authors.initials: SB
authors.lastname: Wechsler
authors.forename: A C
authors.initials: AC
authors.lastname: Kao
authors.forename: E P
authors.initials: EP
authors.lastname: Gerstenfeld
authors.forename: A D
authors.initials: AD
authors.lastname: Merliss
authors.forename: M P
authors.initials: MP
authors.lastname: Carboni
authors.forename: R M
authors.initials: RM
authors.lastname: Bryant
mesh_terms: D000217:Acyltransferases; D000293:Adolescent; D002311:Cardiomyopathy, Dilated / Q000235:genetics / Q000503:physiopathology / Q000628:therapy; D002648:Child; D017147:Defibrillators, Implantable; D004562:Electrocardiography; D040181:Genetic Diseases, X-Linked / Q000235:genetics / Q000503:physiopathology / Q000628:therapy; D020022:Genetic Predisposition to Disease; D006323:Heart Arrest / Q000209:etiology / Q000628:therapy; D006801:Humans; D008297:Male; D009154:Mutation; D010641:Phenotype; D011506:Proteins / Q000235:genetics; D017180:Tachycardia, Ventricular / Q000235:genetics / Q000503:physiopathology / Q000628:therapy; D014157:Transcription Factors / Q000235:genetics; D014693:Ventricular Fibrillation / Q000235:genetics / Q000503:physiopathology / Q000628:therapy
chemical_list: D011506:Proteins; D014157:Transcription Factors; D000217:Acyltransferases; C108675:TAFAZZIN protein, human