Achten Anouk, van Empel Vanessa P M, Weerts Jerremy, Mourmans Sanne, Brunner-La Rocca Hans-Peter, Sanders-van Wijk Sandra, Knackstedt Christian
Department of Cardiology, Cardiovascular Research Institute Maastricht (CARIM), Maastricht University Medical Centre (MUMC+), Maastricht, The Netherlands.
Department of Cardiology, Zuyderland Medical Centre, Heerlen, The Netherlands.
Neth Heart J. 2025 Jun;33(6):193-198. doi: 10.1007/s12471-025-01954-3. Epub 2025 Apr 28.
Heart failure with preserved ejection fraction (HFpEF) represents a heterogeneous syndrome characterised by various underlying aetiologies, such as transthyretin amyloid cardiomyopathy (ATTR-CM). The aim of this study was to determine the true prevalence of ATTR-CM in a Dutch all-comers cohort of HFpEF patients.
From 2018 to 2023, all patients diagnosed with HFpEF underwent prospective screening for ATTR-CM. Diagnosis of ATTR-CM was made in accordance with guideline recommendations.
Of the 202 HFpEF patients included (mean ± standard deviation age: 76 ± 7 years; 64% female), 9 (5%) showed cardiac uptake on scintigraphy, of whom 6 (3%) were subsequently diagnosed with wild-type ATTR-CM. Left ventricular wall thickness (LVWT) was significantly higher in ATTR-CM patients than non-amyloid HFpEF patients (median interventricular septum diameter: 15 mm; interquartile range (IQR): 11-17 vs 10 mm; IQR: 9-11; p < 0.001). Interestingly, 2 ATTR-CM patients (33%) did not have increased LVWT at the time of diagnosis. These 2 patients were in a less advanced prognostic stage.
This study revealed a low prevalence of ATTR-CM (3%) in an unselected HFpEF cohort. We identified ATTR-CM patients without increased LVWT (33%), who presented at an earlier disease stage. Hence, relying exclusively on LVWT for the diagnosis of ATTR-CM may result in delayed and/or missed diagnoses.
射血分数保留的心力衰竭（HFpEF）是一种异质性综合征，其特征是存在多种潜在病因，如转甲状腺素蛋白淀粉样变心肌病（ATTR-CM）。本研究的目的是确定荷兰HFpEF患者全人群队列中ATTR-CM的真实患病率。
2018年至2023年，所有诊断为HFpEF的患者均接受了ATTR-CM的前瞻性筛查。ATTR-CM的诊断依据指南推荐进行。
纳入的202例HFpEF患者（平均年龄±标准差：76±7岁；64%为女性）中，9例（5%）在闪烁扫描中显示心脏摄取，其中6例（3%）随后被诊断为野生型ATTR-CM。ATTR-CM患者的左心室壁厚度（LVWT）显著高于非淀粉样变HFpEF患者（室间隔直径中位数：15mm；四分位数间距（IQR）：11-17 vs 10mm；IQR：9-11；p<0.001）。有趣的是，2例ATTR-CM患者（33%）在诊断时LVWT未增加。这2例患者处于预后较早期阶段。
本研究显示，在未选择的HFpEF队列中，ATTR-CM的患病率较低（3%）。我们发现了LVWT未增加的ATTR-CM患者（33%），他们处于疾病早期阶段。因此，仅依靠LVWT诊断ATTR-CM可能导致诊断延迟和/或漏诊。
