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Abstract：
Fabry disease (FD) is often associated with heart failure (HF). However, data on HF prevalence, prognosis, and applicability of echocardiographic criteria for HF diagnosis in FD remain uncertain.
We evaluated patients with genetically proven FD for symptoms and natriuretic peptides indicating HF. We then analysed the diagnostic utility of the currently recommended European Society of Cardiology (ESC) echocardiographic criteria for HF diagnosis and their relationship to natriuretic peptides. Finally, we examined the association between HF and echocardiographic criteria with mortality and cardiovascular events during follow-up. Of 116 patients with FD, 48 (41%) had symptomatic HF (mean age 58 ± 11 years, 62% male). HF with preserved ejection fraction (HF-pEF) was diagnosed in 43 (91%) patients, representing the dominant phenotype. Left ventricular mass index (LVMi) had the highest diagnostic utility (sensitivity 71% and specificity 83%) for HF diagnosis in FD, followed by E/e\' > 9 (sensitivity 76% and specificity 78%) and global longitudinal strain (GLS) <16% (sensitivity 54% and specificity 88%). Log N-terminal pro-brain natriuretic peptide correlated significantly with LVMi (r = 0.60), E/e\' (r = 0.54), and GLS (r = 0.52) (all Ps < 0.001) but not with left ventricular ejection fraction (r = -0.034, P = 0.72). During follow-up (mean 1208 ± 444 days), patients diagnosed with HF had a higher rate of all-cause mortality and worsening HF (33% vs. 1.5%, P < 0.001). Abnormal LVMi, E/e\' > 9, and GLS < 16% were all associated with higher all-cause mortality and worsening HF.
This study found a high prevalence of symptomatic HF in FD patients. HF-pEF was the dominant phenotype. LVMi, E/e\', and GLS yielded the highest diagnostic utility for HF diagnosis and were significantly correlated with natriuretic peptides levels. Echocardiographic criteria proposed by current ESC HF guidelines apply to Fabry patients and predict cardiovascular events. At follow-up, Fabry patients with HF diagnosis had high event rates and significantly worse prognosis than patients without HF.
We evaluated patients with genetically proven FD for symptoms and natriuretic peptides indicating HF. We then analysed the diagnostic utility of the currently recommended European Society of Cardiology (ESC) echocardiographic criteria for HF diagnosis and their relationship to natriuretic peptides. Finally, we examined the association between HF and echocardiographic criteria with mortality and cardiovascular events during follow-up. Of 116 patients with FD, 48 (41%) had symptomatic HF (mean age 58 ± 11 years, 62% male). HF with preserved ejection fraction (HF-pEF) was diagnosed in 43 (91%) patients, representing the dominant phenotype. Left ventricular mass index (LVMi) had the highest diagnostic utility (sensitivity 71% and specificity 83%) for HF diagnosis in FD, followed by E/e\' > 9 (sensitivity 76% and specificity 78%) and global longitudinal strain (GLS) <16% (sensitivity 54% and specificity 88%). Log N-terminal pro-brain natriuretic peptide correlated significantly with LVMi (r = 0.60), E/e\' (r = 0.54), and GLS (r = 0.52) (all Ps < 0.001) but not with left ventricular ejection fraction (r = -0.034, P = 0.72). During follow-up (mean 1208 ± 444 days), patients diagnosed with HF had a higher rate of all-cause mortality and worsening HF (33% vs. 1.5%, P < 0.001). Abnormal LVMi, E/e\' > 9, and GLS < 16% were all associated with higher all-cause mortality and worsening HF.
This study found a high prevalence of symptomatic HF in FD patients. HF-pEF was the dominant phenotype. LVMi, E/e\', and GLS yielded the highest diagnostic utility for HF diagnosis and were significantly correlated with natriuretic peptides levels. Echocardiographic criteria proposed by current ESC HF guidelines apply to Fabry patients and predict cardiovascular events. At follow-up, Fabry patients with HF diagnosis had high event rates and significantly worse prognosis than patients without HF.
摘要：
目的：法布里病（FD）通常与心力衰竭（HF）有关。然而,关于HF患病率的数据，预后,超声心动图诊断标准在FD中的适用性仍不确定。
结果：我们评估了经遗传证实的FD患者的症状和利钠肽，表明HF。然后，我们分析了目前推荐的欧洲心脏病学会（ESC）超声心动图诊断HF的诊断实用性及其与利钠肽的关系。最后,我们研究了HF和超声心动图标准与随访期间死亡率和心血管事件之间的关系.116例FD患者中，48（41％）有症状性HF（平均年龄58±11岁，62%男性）。43例（91%）患者诊断出射血分数保留的HF（HF-pEF），代表显性表型。左心室质量指数（LVMi）对FD中HF诊断具有最高的诊断效用（敏感性为71％，特异性为83％），其次是E/e'>9（敏感性76％和特异性78％）和整体纵向应变（GLS）<16％（敏感性54％和特异性88％）。LogN末端脑钠肽前体与LVMi显著相关(r=0.60),E/E'(r=0.54),和GLS（r=0.52）（所有Ps<0.001），但与左心室射血分数无关（r=-0.034，P=0.72）。随访期间（平均1208±444天），诊断为HF的患者全因死亡率和HF恶化率较高(33%vs.1.5%,P<0.001)。LVMi异常,E/e'>9和GLS<16%均与更高的全因死亡率和恶化的HF相关。
结论：本研究发现FD患者有症状的HF患病率较高。HF-pEF是显性表型。LVMi,E/E\',GLS对HF诊断的诊断效用最高，并且与利钠肽水平显着相关。当前ESCHF指南提出的超声心动图标准适用于Fabry患者并可预测心血管事件。在后续行动中,诊断为HF的Fabry患者的事件发生率较高，预后明显比没有HF的患者差。
结果：我们评估了经遗传证实的FD患者的症状和利钠肽，表明HF。然后，我们分析了目前推荐的欧洲心脏病学会（ESC）超声心动图诊断HF的诊断实用性及其与利钠肽的关系。最后,我们研究了HF和超声心动图标准与随访期间死亡率和心血管事件之间的关系.116例FD患者中，48（41％）有症状性HF（平均年龄58±11岁，62%男性）。43例（91%）患者诊断出射血分数保留的HF（HF-pEF），代表显性表型。左心室质量指数（LVMi）对FD中HF诊断具有最高的诊断效用（敏感性为71％，特异性为83％），其次是E/e'>9（敏感性76％和特异性78％）和整体纵向应变（GLS）<16％（敏感性54％和特异性88％）。LogN末端脑钠肽前体与LVMi显著相关(r=0.60),E/E'(r=0.54),和GLS（r=0.52）（所有Ps<0.001），但与左心室射血分数无关（r=-0.034，P=0.72）。随访期间（平均1208±444天），诊断为HF的患者全因死亡率和HF恶化率较高(33%vs.1.5%,P<0.001)。LVMi异常,E/e'>9和GLS<16%均与更高的全因死亡率和恶化的HF相关。
结论：本研究发现FD患者有症状的HF患病率较高。HF-pEF是显性表型。LVMi,E/E\',GLS对HF诊断的诊断效用最高，并且与利钠肽水平显着相关。当前ESCHF指南提出的超声心动图标准适用于Fabry患者并可预测心血管事件。在后续行动中,诊断为HF的Fabry患者的事件发生率较高，预后明显比没有HF的患者差。
