title: Cardiac transplantation in Friedreich Ataxia: Extended follow-up.
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.
authors.affiliation: Department of Pediatrics and Neurology, The Children's Hospital of Philadelphia, PA, United States.
authors.forename: Ashley
authors.initials: A
authors.lastname: McCormick
authors.affiliation: Department of Pediatrics and Neurology, The Children's Hospital of Philadelphia, PA, United States.
authors.forename: Julianna
authors.initials: J
authors.lastname: Shinnick
authors.affiliation: Department of Pediatrics and Neurology, The Children's Hospital of Philadelphia, PA, United States; Perelman School of Medicine University of Pennsylvania, Philadelphia, PA, United States.
authors.forename: Kim
authors.initials: K
authors.lastname: Schadt
authors.affiliation: Department of Pediatrics and Cardiology, Columbia University College of Physicians and Surgeons, New York, NY, United States.
authors.forename: Rose
authors.initials: R
authors.lastname: Rodriguez
authors.affiliation: Department of Pediatrics and Cardiology, Columbia University College of Physicians and Surgeons, New York, NY, United States.
authors.forename: Linda
authors.initials: L
authors.lastname: Addonizio
authors.affiliation: Department of Neurology, Columbia University Medical Center, New York, NY, United States.
authors.forename: Michio
authors.initials: M
authors.lastname: Hirano
authors.affiliation: Department of Neurology, David Geffen School of Medicine University of California Los Angeles, Los Angeles, CA, United States.
authors.forename: Susan
authors.initials: S
authors.lastname: Perlman
authors.affiliation: Perelman School of Medicine University of Pennsylvania, Philadelphia, PA, United States; Department of Pediatrics and Cardiology, The Children's Hospital of Philadelphia, PA, United States.
authors.forename: Kimberly Y
authors.initials: KY
authors.lastname: Lin
authors.affiliation: Department 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.
authors.forename: David R
authors.initials: DR
authors.lastname: Lynch
mesh_terms: D000328:Adult; D009202:Cardiomyopathies / Q000209:etiology* / Q000601:surgery*; D005621:Friedreich Ataxia / Q000150:complications* / Q000235:genetics / Q000601:surgery; D016027:Heart Transplantation / Q000379:methods*; D006801:Humans; D008137:Longitudinal Studies; D008297:Male; D019680:Trinucleotide Repeat Expansion / Q000235:genetics
keywords: Cardiac transplantation; Cardiomyopathy; Ejection fraction; Friedreich Ataxia (FRDA); Guanine-guanine-adenine (GAA) triplet repeat