Garcia-Pavia Pablo, Damy Thibaud, Piriou Nicolas, Barriales-Villa Roberto, Cappelli Francesco, Bahus Catherine, Munteanu Carmen, Keohane Denis, Mallaina Pablo, Elliott Perry
Hospital Universitario Puerta de Hierro Majadahonda, IDIPHISA, CIBERCV, Madrid, Spain.
Centro Nacional de Investigaciones Cardiovasculares (CNIC), Madrid, Spain.
ESC Heart Fail. 2024 Dec;11(6):4314-4324. doi: 10.1002/ehf2.14971. Epub 2024 Aug 29.
Recognition of transthyretin amyloid cardiomyopathy is increasing due to advances in cardiac imaging and diagnostic strategies, but questions remain regarding disease frequency and characteristics. We examined the prevalence and characteristics of transthyretin amyloid cardiomyopathy in older patients with hypertrophic cardiomyopathy of unascertained aetiology.
TTRACK was a multicentre, non-interventional, cross-sectional epidemiologic study funded by Pfizer and conducted in 20 hospitals and medical centres in 11 countries (NCT03842163). Eligible patients were aged ≥50 years, had hypertrophic cardiomyopathy (maximal end-diastolic left ventricular wall thickness ≥15 mm on echocardiogram) without an identified genetic or alternative origin at study enrolment, and underwent Technetium bone scintigraphy, with or without single photon emission computed tomography (SPECT). Cardiac-versus-bone uptake on scans was visually scored from 0 to 3 (Perugini scoring). Patients with grades 1-3 underwent monoclonal protein and laboratory testing and transthyretin (TTR) gene sequencing. Of 766 eligible patients, 691 (90.2%) had scintigraphy alone and 75 (9.8%) scintigraphy plus SPECT. Two hundred and eight patients (27.2%) had grade 2 or 3 cardiac uptake on scintigraphy; 144 (18.8%) had grade 2 or 3 cardiac uptake and no evidence of plasma cell dyscrasia and were diagnosed with transthyretin amyloid cardiomyopathy. Of patients with transthyretin amyloid cardiomyopathy, 11 (7.6%) had a pathogenic TTR gene variant and 34 (23.8%), 74 (51.7%), and 35 (24.5%) had New York Heart Association class I, II, and III/IV heart failure (HF) symptoms, respectively. Clinical and laboratory diagnostic characteristics were observed in ≥90% of patients with transthyretin amyloid cardiomyopathy. The characteristics most strongly associated with transthyretin amyloid cardiomyopathy on multivariable analysis were carpal tunnel syndrome (odds ratio [OR] 54.3; P < 0.0001) and male sex (OR 7.9; P < 0.0001).
In the TTRACK study, almost one in five patients ≥50 years of age with hypertrophic cardiomyopathy had transthyretin amyloid cardiomyopathy. Greater awareness of the frequency and characteristics of transthyretin amyloid cardiomyopathy in older patients with hypertrophic cardiomyopathy are needed to help improve early detection of this debilitating but treatable disease.
由于心脏成像和诊断策略的进展，转甲状腺素蛋白淀粉样心肌病的识别率正在提高，但关于疾病频率和特征的问题仍然存在。我们研究了病因不明的肥厚型心肌病老年患者中转甲状腺素蛋白淀粉样心肌病的患病率和特征。
TTRACK是一项由辉瑞公司资助的多中心、非干预性横断面流行病学研究，在11个国家的20家医院和医疗中心进行（NCT03842163）。符合条件的患者年龄≥50岁，患有肥厚型心肌病（超声心动图显示舒张末期左心室最大壁厚≥15mm），在研究入组时未发现遗传或其他病因，并接受了锝骨闪烁显像，有无单光子发射计算机断层扫描（SPECT）均可。扫描时心脏与骨骼的摄取情况采用0至3分的视觉评分（佩鲁吉尼评分）。1-3级患者接受单克隆蛋白和实验室检测以及转甲状腺素蛋白（TTR）基因测序。766例符合条件的患者中，691例（90.2%）仅进行了闪烁显像，75例（9.8%）进行了闪烁显像加SPECT。208例患者（27.2%）在闪烁显像时心脏摄取为2级或3级；144例（18.8%）心脏摄取为2级或3级且无浆细胞异常增生证据，被诊断为转甲状腺素蛋白淀粉样心肌病。在转甲状腺素蛋白淀粉样心肌病患者中，11例（7.6%）有致病性TTR基因变异，34例（23.8%）、74例（51.7%）和35例（24.5%）分别有纽约心脏协会I级、II级和III/IV级心力衰竭（HF）症状。≥90%的转甲状腺素蛋白淀粉样心肌病患者观察到临床和实验室诊断特征。多变量分析中与转甲状腺素蛋白淀粉样心肌病最密切相关的特征是腕管综合征（比值比[OR]54.3；P<0.0001）和男性（OR 7.9；P<0.0001）。
在TTRACK研究中，年龄≥50岁的肥厚型心肌病患者中，近五分之一患有转甲状腺素蛋白淀粉样心肌病。需要提高对肥厚型心肌病老年患者中转甲状腺素蛋白淀粉样心肌病频率和特征的认识，以帮助改善对这种使人衰弱但可治疗疾病的早期检测。
