McCormick Ashley, Shinnick Julianna, Schadt Kim, Rodriguez Rose, Addonizio Linda, Hirano Michio, Perlman Susan, Lin Kimberly Y, Lynch David R
Department of Pediatrics and Neurology, The Children's Hospital of Philadelphia, PA, United States.
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.
J Neurol Sci. 2017 Apr 15;375:471-473. doi: 10.1016/j.jns.2017.01.027. Epub 2017 Jan 10.
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.
弗里德赖希共济失调（FRDA）是一种常染色体隐性神经退行性疾病，最常见的病因是FXN基因两个等位基因中的鸟嘌呤 - 腺嘌呤 - 腺嘌呤（GAA）三核苷酸重复扩增。尽管进行性共济失调仍然是其标志性临床特征，但FRDA患者发生心肌病的风险很高，常导致过早死亡。目前尚无针对FRDA相关心肌病的特异性治疗方法；即使在晚期心力衰竭患者中，心脏移植也并不常见。本病例系列描述了3例患有终末期心力衰竭但神经系统疾病较轻的FRDA患者接受心脏移植成功后的长期随访情况。我们还回顾并探讨了神经退行性疾病背景下心脏移植的伦理考量。
