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Pediatric Cardiology

, Volume 26, Issue 5, pp 632–637 | Cite as

Ventricular Arrhythmia in the X-linked Cardiomyopathy Barth Syndrome

  • 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
Article

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.

Keywords

Cardiomyopathy Arrhythmia Barth syndrome 

Notes

Acknowledgment

We thank Iris Gonzalez, Ph.D., for the mutation analysis. We are also grateful to the families of these patients for their willingness to contribute. C.T.S. is a recipient of the Howard Hughes Medical Institutes Award for faculty development.

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Copyright information

© Springer Science+Business Media, Inc. 2005

Authors and Affiliations

  • C.T. Spencer
    • 1
  • B.J. Byrne
    • 1
  • M.H. Gewitz
    • 2
  • S.B. Wechsler
    • 3
  • A.C. Kao
    • 4
  • E.P. Gerstenfeld
    • 4
  • A.D. Merliss
    • 5
  • M.P. Carboni
    • 6
  • R.M. Bryant
    • 1
  1. 1.Department of Pediatrics, Division of CardiologyUniversity of FloridaGainesvilleUSA
  2. 2.Department of Pediatrics, Division of CardiologyNew York Medical CollegeValhallaUSA
  3. 3.Department of Pediatrics, Division of CardiologyUniversity of MichiganAnn ArborUSA
  4. 4.Cardiovascular DivisionUniversity of PennsylvaniaPhiladelphiaUSA
  5. 5.Bryan LGH Heart InstituteLincolnUSA
  6. 6.Department of PediatricsDivision of CardiologyDuke University Medical CenterDurhamUSA

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