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转甲状腺素蛋白淀粉样心肌病V122I基因变异体与野生型及其他遗传变异体的临床比较:一项系统评价

Clinical comparison of V122I genotypic variant of transthyretin amyloid cardiomyopathy with wild-type and other hereditary variants: a systematic review.

作者信息

Goyal Amandeep, Lahan Shubham, Dalia Tarun, Ranka Sagar, Bhattad Venugopal Brijmohan, Patel Ronak R, Shah Zubair

机构信息

Department of Cardiovascular Medicine, Medical Center, The University of Kansas, Kansas City, KS, USA.

University College of Medical Sciences, New Delhi, India.

出版信息

Heart Fail Rev. 2022 May;27(3):849-856. doi: 10.1007/s10741-021-10098-6. Epub 2021 Mar 25.

Abstract

V122I genotype variant (pV142I) is the most common hereditary transthyretin amyloidosis (hATTR) in the USA, with 3-3.5% of African-Americans being the carriers of this mutation. We aimed to compare baseline clinical features, cardiac parameters, and mortality in V122I-ATTR with the wild-type ATTR and other hATTR subtypes. We systematically searched PubMed/Medline and Google Scholar databases to identify relevant studies from inception to 10th September, 2020 reporting phenotypic, echocardiographic, and/or laboratory parameters in patients with hereditary and wild types of cardiac amyloidoses. A total of 2843 patients from 7 individual studies with 67-100% males and an overall follow-up duration of 51.6 ± 30.4 months were identified. The mean age of diagnosis among wild-type ATTR patients was 77 years, followed by 71.2 and 65 years in V122I and T60A group patients, respectively. V122I patients were mostly black, had a poor quality of life, and highest mortality risk compared with other subtypes. Merely, the presence of V122I mutation was identified as an independent predictor of mortality. V30M subtype correlated with the least severe cardiac disease and a median survival duration comparable with T60A subtype. V122I ATTR is an aggressive disease, prevalent in African-Americans, and is associated with a greater morbidity and mortality, which is partly attributed to its misdiagnosis and/or late diagnosis. Current advances in non-invasive studies to diagnose hATTR coupled with concurrent drug therapies have improved quality of life and provide a survival benefit to these patients.

摘要

V122I基因型变异(pV142I)是美国最常见的遗传性转甲状腺素蛋白淀粉样变性(hATTR),3%至3.5%的非裔美国人是这种突变的携带者。我们旨在比较V122I-ATTR与野生型ATTR及其他hATTR亚型的基线临床特征、心脏参数和死亡率。我们系统检索了PubMed/Medline和谷歌学术数据库,以识别从开始到2020年9月10日报告遗传性和野生型心脏淀粉样变性患者的表型、超声心动图和/或实验室参数的相关研究。共确定了来自7项个体研究的2843例患者,男性占67%至100%,总体随访时间为51.6±30.4个月。野生型ATTR患者的平均诊断年龄为77岁,V122I组和T60A组患者分别为71.2岁和65岁。与其他亚型相比,V122I患者大多为黑人,生活质量较差,死亡风险最高。仅V122I突变的存在被确定为死亡率的独立预测因素。V30M亚型与最不严重的心脏病相关,中位生存期与T60A亚型相当。V122I ATTR是一种侵袭性疾病,在非裔美国人中普遍存在,与更高的发病率和死亡率相关,部分原因是其误诊和/或诊断延迟。目前诊断hATTR的非侵入性研究进展以及同时进行的药物治疗改善了这些患者的生活质量并提供了生存益处。

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