Ventricular arrhythmia in the X-linked cardiomyopathy Barth syndrome.
Publication
, Journal Article
Spencer, CT; Byrne, BJ; Gewitz, MH; Wechsler, SB; Kao, AC; Gerstenfeld, EP; Merliss, AD; Carboni, MP; Bryant, RM
Published in: Pediatr Cardiol
2005
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.
Duke Scholars
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Published In
Pediatr Cardiol
DOI
ISSN
0172-0643
Publication Date
2005
Volume
26
Issue
5
Start / End Page
632 / 637
Location
United States
Related Subject Headings
- Ventricular Fibrillation
- Transcription Factors
- Tachycardia, Ventricular
- Proteins
- Phenotype
- Mutation
- Male
- Humans
- Heart Arrest
- Genetic Predisposition to Disease
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Spencer, C. T., Byrne, B. J., Gewitz, M. H., Wechsler, S. B., Kao, A. C., Gerstenfeld, E. P., … Bryant, R. M. (2005). Ventricular arrhythmia in the X-linked cardiomyopathy Barth syndrome. Pediatr Cardiol, 26(5), 632–637. https://doi.org/10.1007/s00246-005-0873-z
Spencer, C. T., B. J. Byrne, M. H. Gewitz, S. B. Wechsler, A. C. Kao, E. P. Gerstenfeld, A. D. Merliss, M. P. Carboni, and R. M. Bryant. “Ventricular arrhythmia in the X-linked cardiomyopathy Barth syndrome.” Pediatr Cardiol 26, no. 5 (2005): 632–37. https://doi.org/10.1007/s00246-005-0873-z.
Spencer CT, Byrne BJ, Gewitz MH, Wechsler SB, Kao AC, Gerstenfeld EP, et al. Ventricular arrhythmia in the X-linked cardiomyopathy Barth syndrome. Pediatr Cardiol. 2005;26(5):632–7.
Spencer, C. T., et al. “Ventricular arrhythmia in the X-linked cardiomyopathy Barth syndrome.” Pediatr Cardiol, vol. 26, no. 5, 2005, pp. 632–37. Pubmed, doi:10.1007/s00246-005-0873-z.
Spencer CT, Byrne BJ, Gewitz MH, Wechsler SB, Kao AC, Gerstenfeld EP, Merliss AD, Carboni MP, Bryant RM. Ventricular arrhythmia in the X-linked cardiomyopathy Barth syndrome. Pediatr Cardiol. 2005;26(5):632–637.
Published In
Pediatr Cardiol
DOI
ISSN
0172-0643
Publication Date
2005
Volume
26
Issue
5
Start / End Page
632 / 637
Location
United States
Related Subject Headings
- Ventricular Fibrillation
- Transcription Factors
- Tachycardia, Ventricular
- Proteins
- Phenotype
- Mutation
- Male
- Humans
- Heart Arrest
- Genetic Predisposition to Disease