Fabry disease: development and progression of left ventricular hypertrophy despite long-term enzyme replacement therapy.

IF 5.1 2区医学 Q1 CARDIAC & CARDIOVASCULAR SYSTEMS

Heart Pub Date : 2024-07-10 DOI:10.1136/heartjnl-2024-323975

Niccolo Maurizi, Albina Nowak, Christiane Gruner, Mehdi Namdar, Christian Schmied, Alessandra Pia Porretta, Guillaume Barbey, Veronique Monzambani, Pierre Monney, Frédéric Barbey

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引用次数: 0

Abstract

Background: Enzyme replacement therapy (ERT) may halt or attenuate disease progression in patients with Anderson-Fabry disease (AFD). However, whether left ventricular hypertrophy (LVH) can be prevented by early therapy or may still progress despite ERT over a long-term follow-up is still unclear.

Methods: Consecutive patients with AFD from the Independent Swiss-Fabry Cohort receiving ERT who were at least followed up for 5 years were included. Cardiac progression was defined as an increase of >10 g/m² in left ventricular mass index (LVMI) between the first and the last available follow-up transthoracic echocardiography.

Results: 60 patients (35 (23-48) years, 39 (65%) men) were followed up for 10.5 (7.2-12.2) years. 22 had LVH at ERT start (LVMI of 150±38 g/m²). During follow-up, 22 (36%, 34±15 years) had LVMI progression of 12.1 (7-17.6) g/m² per 100 patient-years, of these 7 (11%, 29±13 years) with no LVH at baseline. Three of them progressed to LVH. LVMI progression occurred mostly in men (17 of 39 (43%) vs 5 of 21 (24%), p<0.01) and after the age of 30 years (17 of 22 (77%)). LVH at ERT start was associated with LVMI progression (OR 1.3, 95% CI 1.1 to 2.6; p=0.02). A total of 19 (31%) patients experienced a major AFD-related event. They were predominantly men (17 of 19, 89%), older (45±11 vs 32±9 years) with baseline LVH (12 of 19, 63%), and 10 of 19 (52%) presented with LVMI progression.

Conclusions: Over a median follow-up of >10 years under ERT, 36% of the patients still had LVMI cardiac progression, and 32%, predominantly older men, experienced major AFD-related events. LVH at treatment initiation was a strong predictor of LVMI progression and adverse events on ERT.

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法布里病：尽管长期接受酶替代疗法，左心室肥大仍在发展和恶化。

背景：酶替代疗法（ERT）可阻止或减轻安德森-法布里病（AFD）患者的疾病进展。然而，早期治疗是否能预防左心室肥厚（LVH），或者在长期随访过程中尽管进行了 ERT 治疗，左心室肥厚是否仍会进展，目前仍不清楚：方法：纳入瑞士-法布里独立队列中接受 ERT 治疗且至少随访 5 年的 AFD 患者。心脏进展的定义是：在第一次和最后一次经胸超声心动图随访之间，左心室质量指数（LVMI）增加>10 g/m2：60名患者（35（23-48）岁，39（65%）名男性）接受了10.5（7.2-12.2）年的随访。22 名患者在 ERT 开始时患有 LVH（LVMI 为 150±38 g/m2）。在随访期间，22 名患者（36%，34±15 岁）的 LVMI 进展为每 100 患者年 12.1（7-17.6）克/平方米，其中 7 名患者（11%，29±13 岁）基线时无 LVH。其中三人进展为 LVH。LVMI 进展主要发生在男性身上（39 人中有 17 人（43%），21 人中有 5 人（24%），P 结论：在 ERT 中位随访超过 10 年的时间里，36% 的患者仍有 LVMI 心脏病进展，32% 的患者（主要是老年男性）发生了重大房颤相关事件。开始治疗时的 LVH 是 LVMI 进展和 ERT 不良事件的有力预测因素。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Heart 医学-心血管系统

CiteScore

10.30

自引率

5.30%

发文量

320

审稿时长

3-6 weeks

期刊介绍： Heart is an international peer reviewed journal that keeps cardiologists up to date with important research advances in cardiovascular disease. New scientific developments are highlighted in editorials and put in context with concise review articles. There is one free Editor’s Choice article in each issue, with open access options available to authors for all articles. Education in Heart articles provide a comprehensive, continuously updated, cardiology curriculum.