Predictores de mal pronóstico en una extensa cohorte de pacientes con amiloidosis cardiaca hereditaria por transtirretina

IF 4.2 2区医学 Q2 Medicine

Revista espanola de cardiologia Pub Date : 2026-07-01 Epub Date: 2026-02-21 DOI:10.1016/j.recesp.2025.12.013

Tomás Ripoll-Vera, Fernando de Frutos, José González-Costello, Ana José Manovel-Sánchez, Esther Zorio-Grima, M. Teresa Bosch-Rovira, José Manuel García-Pinilla, María Robledo-Iñarritu, Javier Limeres-Freire, Ana García-Álvarez, María Gallego-Delgado, María Ángeles Espinosa-Castro, José López-Aguilera, Rosa Macías-Ruiz, María Valverde-Gómez, Xabier Arana-Achaga, Ana Isabel Rodríguez-Serrano, Edgardo Alania-Torres, José Ángel Urbano-Moral, José M. Larrañaga-Moreira, Jorge Álvarez-Rubio

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Abstract

Introduction and objectives

Hereditary transthyretin amyloidosis (hATTR) is a rare, multisystemic, autosomal dominant disease. Cardiac involvement worsens prognosis. We aimed to characterize Spanish patients with hATTR cardiac amyloidosis (hATTR-CA) and to identify predictors of poor prognosis.

Methods

We conducted a retrospective, multicenter study in 39 Spanish hospitals, including adults with genetically confirmed hATTR and cardiac involvement (January 2000-September 2022). Independent predictors of poor prognosis (death, heart transplantation, heart failure, or cardiovascular hospitalization) were identified using multivariate logistic regression. Data were also collected on clinical and genetic characteristics, management patterns, and event-free survival.

Results

A total of 442 patients were included (67.6% male; median age at diagnosis, 65 years). Fifteen TTR variants were identified, with p.Val30Met being the most frequent (64.9%). The most common extracardiac manifestation was neuropathy (64.6%). At baseline, most patients were in New York Heart Association class I-II, with progressive worsening during follow-up. Overall, 48.9% of patients were hospitalized, and 21.9% died; 25.3% of deaths were heart failure-related. Five-year event-free survival was 80.2% from symptom onset and 66.9% from diagnosis. Disease-specific treatments (tafamidis, patisiran, inotersen, or liver transplant) were associated with improved survival (P < .001). In an exploratory analysis stratified by diagnosis before vs after 2018, event-free survival did not differ significantly (HR, 1.04; 95%CI, 0.63-1.72; P = .88). Independent predictors of poor prognosis included New York Heart Association class II-IV, lower left ventricular ejection fraction, elevated N-terminal pro-B-type natriuretic peptide, and the presence of neurological involvement.

Conclusions

This national cohort—the largest reported to date—highlights the clinical and genetic heterogeneity of hATTR -CA in Spain. Early diagnosis and disease-specific therapies are essential to improving prognosis.

Full English text available from:www.revespcardiol.org/en

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大量经螺旋体引起的遗传性心脏淀粉样变患者预后不良的预后因素

简介与目的遗传性甲状腺转蛋白淀粉样变性是一种罕见的多系统常染色体显性遗传病。心脏受累使预后恶化。我们的目的是描述西班牙hATTR心脏淀粉样变（hatr - ca）患者的特征，并确定不良预后的预测因素。方法：我们在西班牙39家医院进行了一项回顾性、多中心研究，包括2000年1月至2022年9月遗传确诊的hATTR和心脏受累的成年人。预后不良的独立预测因素（死亡、心脏移植、心力衰竭或心血管住院）采用多变量logistic回归确定。还收集了临床和遗传特征、管理模式和无事件生存期的数据。结果共纳入442例患者，其中男性67.6%，诊断时中位年龄65岁。共鉴定出15种TTR变异，其中p.Val30Met最为常见（64.9%）。最常见的心外表现为神经病变（64.6%）。在基线时，大多数患者属于纽约心脏协会I-II级，随访期间病情逐渐恶化。总体而言，48.9%的患者住院，21.9%的患者死亡；25.3%的死亡与心力衰竭有关。从症状开始的5年无事件生存率为80.2%，从诊断开始的5年无事件生存率为66.9%。疾病特异性治疗（他非他胺、帕西兰、intertersen或肝移植）与生存率提高相关（P < 0.001）。在2018年前后按诊断分层的探索性分析中，无事件生存率无显著差异（HR, 1.04; 95%CI, 0.63-1.72; P = 0.88）。预后不良的独立预测因素包括纽约心脏协会II-IV级、左心室射血分数降低、n端前b型利钠肽升高以及神经系统受累。这是迄今为止报道的最大的全国性队列，突出了西班牙hATTR -CA的临床和遗传异质性。早期诊断和疾病特异性治疗对改善预后至关重要。完整的英文文本可从：www.revespcardiol.org/en

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来源期刊

Revista espanola de cardiologia 医学-心血管系统

CiteScore

4.20

自引率

13.60%

发文量

257

审稿时长

28 days

期刊介绍： Revista Española de Cardiología, Revista bilingüe científica internacional, dedicada a las enfermedades cardiovasculares, es la publicación oficial de la Sociedad Española de Cardiología.