与转甲状腺素蛋白 Ala97Ser 相关的遗传性转甲状腺素蛋白淀粉样变性的心脏表现和预后意义。

Cardiac manifestations and prognostic implications of hereditary transthyretin amyloidosis associated with transthyretin Ala97Ser.

机构信息

Department of Neurology, National Taiwan University Hospital, Taiwan; National Taiwan University Hospital, Jin-Shan Branch, Taiwan.

Graduate Institute of Clinical Medicine, National Taiwan University College of Medicine, Taipei, Taiwan; Division of Cardiology, Heart Center, Cheng- Hsin General Hospital, Taipei, Taiwan.

出版信息

J Formos Med Assoc. 2020 Mar;119(3):693-700. doi: 10.1016/j.jfma.2019.08.027. Epub 2019 Sep 11.

DOI:10.1016/j.jfma.2019.08.027

PMID:31521469

Abstract

BACKGROUND

The cardiac manifestations of late-onset hereditary transthyretin amyloidosis with p.A97S variant have not been extensively studied, and the prognostic factors remain unclear.

METHODS

The clinical profile, echocardiography, and ECG of patients diagnosed with ATTR p.A97S polyneuropathy between 2000 and 2016 were retrospectively collected. 67 patients with ATTR p.A97S were collected.

RESULTS

A total of 82% of patients met the criteria for left ventricular (LV) hypertrophy. Reduced global longitudinal strain (GLS) was noted in 42.1% of patients, and 14% of patients had a relative apical sparing pattern. A low voltage pattern in the ECG was observed in 31.3% of patients, while 64.2% presented with a pseudoinfarction pattern. End-systolic LV inner dimension (HR: 2.25 (95% CI: 1.01-5.01), p = 0.048), reduced GLS (HR: 5.26 (1.08-25.0), p = 0.039), relative apical longitudinal strain (RALS>1, HR: 8.57 (1.69-43.3), p = 0.009), increased E/A ratio (HR: 6.51 (1.17-36.4), p = 0.033), and increased QRS duration (HR: 1.02 (1.00-1.04), p = 0.05) were correlated with reduced survival in univariate analysis. Multivariate analysis revealed reduced RALS was significantly correlated with reduced survival (HR: 13.00 (1.81-93.45), p = 0.011).

CONCLUSION

Our findings reveal that ATTR p.A97S is a cardiomyopathy as well as a polyneuropathic syndrome. Routine use of more contemporary echocardiographic techniques are recommended to identify cardiac amyloidosis and provide prognostic information.

摘要

背景

迟发性遗传性转甲状腺素淀粉样变性伴 p.A97S 变异的心脏表现尚未得到广泛研究，其预后因素仍不清楚。

方法

回顾性收集 2000 年至 2016 年间诊断为 ATTR p.A97S 多发性神经病的患者的临床特征、超声心动图和心电图。共收集了 67 例 ATTR p.A97S 患者。

结果

82%的患者符合左心室（LV）肥厚标准。42.1%的患者存在整体纵向应变（GLS）降低，14%的患者存在相对心尖保留模式。31.3%的患者心电图出现低电压模式，64.2%的患者表现为假性梗死模式。LV 收缩末期内径（HR：2.25（95%CI：1.01-5.01），p=0.048）、GLS 降低（HR：5.26（1.08-25.0），p=0.039）、相对心尖纵向应变（RALS>1，HR：8.57（1.69-43.3），p=0.009）、E/A 比值升高（HR：6.51（1.17-36.4），p=0.033）和 QRS 持续时间延长（HR：1.02（1.00-1.04），p=0.05）与单因素分析中的生存时间降低相关。多因素分析显示，RALS 降低与生存时间降低显著相关（HR：13.00（1.81-93.45），p=0.011）。