Damy Thibaud, Judge Daniel P, Kristen Arnt V, Berthet Karine, Li Huihua, Aarts Janske
Department of Cardiology, University Hospital Henri Mondor, Amyloidosis Mondor Network, DHU ATVB, Créteil, France,
J Cardiovasc Transl Res. 2015 Mar;8(2):117-27. doi: 10.1007/s12265-015-9613-9. Epub 2015 Mar 6.
A phase 2, open-label study in 21 patients with non-Val30Met and non-Val122Ile hereditary transthyretin amyloidosis showed that tafamidis (20 mg daily for 12 months) stabilized these transthyretin variants. We assessed cardiac amyloid infiltration and cardiac abnormalities in this same study population. At baseline, median age was 64.3 years, 11 patients were in NYHA class II, 13 had conduction abnormalities, 14 N-terminal pro-hormone brain natriuretic peptide concentrations >300 pg/ml, and 17 interventricular septal thickness >12 mm. Mean (SD) left ventricular ejection fraction was 60.3% (9.96). Patients with normal heart rate variability increased from 4/19 at baseline to 8/19 at month 12 (p < 0.05). Cardiac biomarkers remained stable. Although four patients had increases in interventricular septal thickness ≥ 2 mm, the remainder had stable septal wall thickness. There were no clinically relevant changes in mean echocardiographic/electrocardiographic variables and no safety concerns.
一项针对21例非Val30Met和非Val122Ile遗传性转甲状腺素蛋白淀粉样变性患者的2期开放标签研究表明，他法米地（每日20毫克，持续12个月）可使这些转甲状腺素蛋白变体稳定。我们在同一研究人群中评估了心脏淀粉样蛋白浸润和心脏异常情况。基线时，中位年龄为64.3岁，11例患者为纽约心脏协会（NYHA）II级，13例有传导异常，14例N末端前体脑利钠肽浓度>300 pg/ml，17例室间隔厚度>12 mm。平均（标准差）左心室射血分数为60.3%（9.96）。心率变异性正常的患者从基线时的4/19增加到第12个月时的8/19（p<0.05）。心脏生物标志物保持稳定。尽管有4例患者的室间隔厚度增加≥2 mm，但其余患者的室壁厚度保持稳定。平均超声心动图/心电图变量无临床相关变化，也无安全问题。
