转甲状腺素蛋白 Tyr78Phe 突变致淀粉样心肌病。
Amyloid Cardiomyopathy in the Rare Transthyretin Tyr78Phe Mutation.
机构信息
Cardiovascular Unit, Department of Internal Medicine, University of Genova and San Martino Hospital, Viale Benedetto XV, 6, 16132, Genoa, Italy.
Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genova and San Martino Hospital, Genoa, Italy.
出版信息
J Cardiovasc Transl Res. 2019 Dec;12(6):514-516. doi: 10.1007/s12265-018-9859-0. Epub 2019 Jan 2.
Tyr78Phe is a rare pathogenic transthyretin (TTR) mutation. Few previous reports described a late-onset hereditary transthyretin-related amyloidosis (ATTR-m) form with a variable phenotype, mainly dominated by neurological manifestations. We describe the case of a 69-year-old male with massive but asymptomatic cardiac infiltration and only subclinical neurological involvement, and review the literature to depict characteristics of the Tyr78Phe TTR mutation.
Tyr78Phe 是一种罕见的致病性转甲状腺素蛋白（TTR）突变。以前的少数报告描述了一种迟发性遗传性转甲状腺素蛋白相关性淀粉样变性（ATTR-m）形式，其表现型具有变异性，主要以神经表现为主。我们描述了一例 69 岁男性的病例，其心脏浸润广泛但无症状，且仅有亚临床神经受累，并回顾了文献，以描述 Tyr78Phe TTR 突变的特征。
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