背景:不同程度的左心室肥厚(LVH)和左心室(LV)机械功能在法布里病中的预后价值尚不清楚。我们旨在评估LVH严重程度之间的关联,LV机械功能,法布里病的临床结果。
方法:我们从单中心注册法布里病成年患者中进行了一项回顾性队列研究。超声心动图测量左心室质量指数(LVMI)。使用性别特异性截止值通过LVMI对LVH的严重程度进行分类。通过斑点追踪分析将LV机械功能测量为LV整体纵向应变(GLS)。主要结局是5年时主要不良心血管事件(MACE)的复合,包括心力衰竭住院治疗,持续性室性心动过速,急性缺血性卒中,和全因死亡率。
结果:该研究包括268例患者(年龄50.4±15.4岁,男性46.6%)法布里病(83.2%IVS4+919G>A突变),106例患者(39.6%)有LVH。轻度患者,中度,或重度LVH的5年MACE发生率为7.4%,10%,30.5%,分别(P<0.001)。此外,LVGLS受损(<14.1%)患者的5年MACE发生率高于LVGLS保留患者(32.1%vs.2.4%,P<0.001)。与没有LVH的患者相比,重度LVH是MACE的独立预测因子(调整后的风险比,12.73;95%置信区间,1.3-124.71;P=0.03),在调整了年龄之后,性别,高血压,高脂血症,心房颤动,肾功能,平均E/E\',酶替代疗法(ERT),LVGLS。重度LVH和LVGLS受损的患者MACE发生率最高(log-rankP<0.05),不论性别,基因型,以及是否收到ERT。
结论:通过LVMI对LVH进行性别特异性分级对于法布里病患者的风险分层是可行的,受损的LVGLS进一步改善了预后。
BACKGROUND: The prognostic value of different grades of left ventricular hypertrophy (LVH) and left ventricular (LV) mechanical function in Fabry disease is unclear. We aimed to evaluate the association between the severity of LVH, LV mechanical function, and clinical outcomes in Fabry disease.
METHODS: We conducted a retrospective cohort
study from a single-center registry of adult patients with Fabry disease. Left ventricular mass index (LVMI) was measured by echocardiography. The severity of LVH was categorized by LVMI using the sex-specific cutoff values. Left ventricular mechanical function was measured as LV global longitudinal strain (GLS) by speckle-tracking analysis. The primary outcome was a composite of major adverse cardiovascular events (MACE) at 5 years, including heart failure hospitalization, sustained ventricular tachycardia, acute ischemic stroke, and all-cause mortality.
RESULTS: The
study included 268 patients (age 50.4 ± 15.4 years, men 46.6%) with Fabry disease (83.2% IVS4+919G > A mutation), and 106 patients (39.6%) had LVH. Patients with mild, moderate, or severe LVH had 5-year MACE rates of 7.4%, 10%, and 30.5%, respectively (P < .001). Moreover, patients with impaired LV GLS (<14.1%) had a higher 5-year MACE rate than those with preserved LV GLS (32.1% vs 2.4%, P < .001). Severe LVH was an independent predictor of MACE compared with absence of LVH (adjusted hazard ratio, 12.73; 95% CI, 1.3-124.71; P = .03), after adjusting for age, sex, hypertension, hyperlipidemia, atrial fibrillation, renal function, average E/e\', enzyme replacement therapy, and LV GLS. Patients with severe LVH and impaired LV GLS had the highest incidence for MACE (log-rank P < .05), irrespective of sex, genotypes, and whether receiving enzyme replacement therapy or not.
CONCLUSIONS: Sex-specific grading of LVH by LVMI is practical for risk stratification in patients with Fabry disease, and impaired LV GLS further refines the prognostication.