Objective This study describes the influence of sex and disease phenotype on the occurrence of cardiac events in Fabry disease (FD). Methods Cardiac events from birth to last visit (median age 50 years) were recorded for 213 patients with FD. Patients were categorised as follows : men with classical FD (n=57), men with non-classical FD (n=26), women with classical FD (n=98) and women with non-classical FD (n=32), based on the presence of classical FD symptoms, family history (men and women), biomarkers and residual enzyme activity (men). Event rates per 1000 patient-years after the age of 15 years and median event-free survival (EVS) age were presented. Influence of disease phenotype, sex and their interaction was studied using Firth’s penalised Cox regression. Results The event rates of major cardiovascular events (combined endpoint cardiovascular death (CVD), heart failure (HF) hospitalisation, sustained ventricular arrhythmias (SVAs) and myocardial infarction) were 11.0 (95% CI 6.6 to 17.3) in men with classical FD (EVS 55 years), 4.4 (95% CI 2.5 to 7.1) in women with classical FD (EVS 70 years) and 5.9 (95% CI 2.6 to 11.6) in men with non-classical FD (EVS 70 years). None of these events occurred in women with non-classical FD. Sex and phenotype significantly influenced the risk of major adverse cardiovascular event. CVD was the leading cause of death (75%) to which HF contributed most (42%). The overall rate of SVA was low (14 events in nine patients (4%)). Conclusions Sex and phenotype greatly influence the risk and age of onset of cardiac events in FD. This indicates the need for patient group-specific follow-up and treatment. Data are available upon reasonable request.

中文翻译：

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性别和表型对法布里病患者心脏结局的影响

目的 本研究描述了性别和疾病表型对法布里病 (FD) 心脏事件发生的影响。方法 记录 213 名 FD 患者从出生到最后一次就诊（中位年龄 50 岁）的心脏事件。患者分类如下：经典FD男性（n=57）、非经典FD男性（n=26）、经典FD女性（n=98）和非经典FD女性（n=32），基于经典 FD 症状、家族史（男性和女性）、生物标志物和残留酶活性（男性）的存在。提供了 15 岁后每 1000 患者年的事件发生率和中位无事件生存 (EVS) 年龄。使用 Firth 的惩罚性 Cox 回归研究了疾病表型、性别及其相互作用的影响。结果 经典 FD 男性的主要心血管事件（合并终点心血管死亡（CVD）、心力衰竭（HF）住院、持续性室性心律失常（SVA）和心肌梗死）的事件发生率为 11.0（95% CI 6.6 至 17.3）。 EVS 55 岁），经典 FD（EVS 70 岁）女性为 4.4（95% CI 2.5 至 7.1），非经典 FD 男性（EVS 70 岁）为 5.9（95% CI 2.6 至 11.6）。这些事件均未发生在非经典 FD 女性中。性别和表型显着影响主要不良心血管事件的风险。CVD 是导致死亡的主要原因 (75%)，其中 HF 的贡献最大 (42%)。SVA 的总体发生率较低（9 名患者发生 14 次事件（4%））。结论 性别和表型极大地影响 FD 心脏事件的风险和发病年龄。这表明需要针对特定​​患者组进行随访和治疗。可应合理要求提供数据。