Inherited and Rare Cardiovascular Disease Unit, Department of Translational Medical Sciences, University of Campania "Luigi Vanvitelli", AORN Dei Colli - Monaldi Hospital, Leonardo Bianchi Street, Naples 80100, Italy.
Department of Cardiology, Fondazione Toscana Gabriele Monasterio, Interdisciplinary Center for Health Sciences, Scuola Superiore Sant'Anna, Piazza Martiri Della Libertà 33, Pisa 56127, Italy.
Heart Fail Clin. 2024 Jul;20(3):317-323. doi: 10.1016/j.hfc.2024.03.006. Epub 2024 Apr 10.
Hereditary transthyretin-related amyloidosis (hATTR) is the most common form of familial amyloidosis. It is an autosomal dominant disease caused by a pathogenic variant in the TTR gene. More than 140 TTR gene variants have been associated with hATTR, with the Val30Met variant representing the most common worldwide. The clinical phenotype varies according to the gene variant and includes predominantly cardiac, predominantly neurologic, and mixed phenotypes. The present review aims to describe the genotype-phenotype correlations in hATTR. Understanding these correlations is crucial to facilitate the early identification of the disease, predict adverse outcomes, and guide management with approved disease-modifying therapies.
遗传性转甲状腺素蛋白相关淀粉样变性（hATTR）是最常见的家族性淀粉样变性。它是一种常染色体显性疾病，由 TTR 基因的致病性变异引起。超过 140 种 TTR 基因突变与 hATTR 相关，其中 Val30Met 变异最为常见。根据基因突变的不同，其临床表现也不同，包括主要为心脏、主要为神经和混合表型。本综述旨在描述 hATTR 中的基因型-表型相关性。了解这些相关性对于促进疾病的早期发现、预测不良结局以及指导使用已批准的疾病修饰治疗至关重要。
