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J Neurol Sci. 2017 Jan 10. pii: S0022-510X(17)30028-X. doi: 10.1016/j.jns.2017.01.027. [Epub ahead of print]

Cardiac transplantation in Friedreich Ataxia: Extended follow-up.

Author information

  • 1Department of Pediatrics and Neurology, The Children's Hospital of Philadelphia, PA, United States.
  • 2Department of Pediatrics and Neurology, The Children's Hospital of Philadelphia, PA, United States; Perelman School of Medicine University of Pennsylvania, Philadelphia, PA, United States.
  • 3Department of Pediatrics and Cardiology, Columbia University College of Physicians and Surgeons, New York, NY, United States.
  • 4Department of Neurology, Columbia University Medical Center, New York, NY, United States.
  • 5Department of Neurology, David Geffen School of Medicine University of California Los Angeles, Los Angeles, CA, United States.
  • 6Perelman School of Medicine University of Pennsylvania, Philadelphia, PA, United States; Department of Pediatrics and Cardiology, The Children's Hospital of Philadelphia, PA, United States.
  • 7Department of Pediatrics and Neurology, The Children's Hospital of Philadelphia, PA, United States; Perelman School of Medicine University of Pennsylvania, Philadelphia, PA, United States. Electronic address: lynchd@mail.med.upenn.edu.

Abstract

Friedreich Ataxia (FRDA) is an autosomal recessive neurodegenerative disorder most commonly caused by guanine-adenine-adenine (GAA) trinucleotide repeat expansions in both alleles of the FXN gene. Although progressive ataxia remains the hallmark clinical feature, patients with FRDA are at high risk of developing cardiomyopathy, often resulting in premature death. There is no specific treatment for FRDA-associated cardiomyopathy; even in advanced cardiac failure cardiac transplantation is not commonly pursued. This case series describes extended follow-up of three FRDA cases with end-stage heart failure but mild neurologic disease who underwent successful heart transplantation. We also review and examine the ethical considerations for heart transplantation in the setting of neurodegenerative disease.

KEYWORDS:

Cardiac transplantation; Cardiomyopathy; Ejection fraction; Friedreich Ataxia (FRDA); Guanine-guanine-adenine (GAA) triplet repeat

PMID:
28109580
DOI:
10.1016/j.jns.2017.01.027
[PubMed - as supplied by publisher]
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