Valero María Jesús, Muñoz-Blanco Jose L, Sanchez Alejandro Garrido, Cuerpo Gregorio, Castrodeza Javier, Navas Paula, Sousa Iago, Villa Adolfo, Fernández-Avilés Francisco, Martínez-Sellés Manuel
Department of Cardiology, Hospital Universitario Gregorio Marañón, CIBERCV, 28007 Madrid, Spain.
ALS-Neuromuscular Unit, Department of Neurology, Hospital General Universitario Gregorio Marañón, 28007 Madrid, Spain.
J Cardiovasc Dev Dis. 2022 Mar 9;9(3):80. doi: 10.3390/jcdd9030080.
The information on heart transplantation (HT) in patients with Friedreich's Ataxia (FA) is scarce, and the few published case reports are limited to young patients with mild neurological manifestations. We present the case of a 58-year-old patient with advanced FA (Scale for the Assessment and Rating of Ataxia [SARA] score 30/40), wheelchair-bound for the last 16 years and had urinary incontinence, dysarthria, and neurosensorial deafness. The patient was admitted for a refractory arrhythmic storm and had previous hypertrophic cardiomyopathy that evolved to dilated cardiomyopathy with severely reduced left ventricular ejection fraction and recurrent ventricular arrhythmias. A multidisciplinary team discussed the HT option. The patient was aware of the risks and benefits and considered worthy of the intervention, so he was listed for HT. After a successful surgical intervention, the patient had a long postoperative stay in ICU. He required a high dose of vasopressors, underwent hemofiltration for one month, suffered critical illness myopathy, had several respiratory infections and delayed tracheal extubation. Two and a half months after HT and almost five months at the hospital, the patient was successfully discharged. FA patients with severe heart conditions should be carefully evaluated by a multidisciplinary team to decide the candidacy for HT.
关于弗里德赖希共济失调（FA）患者心脏移植（HT）的信息很少，少数已发表的病例报告仅限于有轻度神经学表现的年轻患者。我们报告一例58岁晚期FA患者（共济失调评估和分级量表[SARA]评分为30/40），在过去16年中一直需要轮椅辅助，并有尿失禁、构音障碍和神经性耳聋。该患者因难治性心律失常风暴入院，既往有肥厚型心肌病，后来发展为扩张型心肌病，左心室射血分数严重降低且反复出现室性心律失常。一个多学科团队讨论了心脏移植方案。患者了解风险和益处，并认为值得进行干预，因此被列入心脏移植名单。经过成功的手术干预后，患者在重症监护病房（ICU）术后住院时间很长。他需要大剂量血管升压药，接受了一个月的血液滤过，患了危重病性肌病，发生了几次呼吸道感染，气管插管延迟。心脏移植两个半月后，在医院住了近五个月，患者成功出院。患有严重心脏疾病的FA患者应由多学科团队仔细评估，以确定是否适合进行心脏移植。
