Ventricular Arrhythmia in the X-linked Cardiomyopathy Barth Syndrome
Kao, A. C.; Gerstenfeld, E. P.; Gewitz, M. H.; Byrne, B. J.; Bryant, R. M.; Wechsler, S. B.; Merliss, A. D.; Spencer, C. T.; Carboni, M. P.
2005-10
Citation
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.; (2005). "Ventricular Arrhythmia in the X-linked Cardiomyopathy Barth Syndrome." Pediatric Cardiology 26(5): 632-637. <http://hdl.handle.net/2027.42/48106>
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.Publisher
Springer-Verlag; Springer Science+Business Media, Inc.
ISSN
0172-0643 1432-1971
Other DOIs
PMID
16235007
Types
Article
URI
http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=retrieve&db=pubmed&list_uids=16235007&dopt=citationMetadata
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