AP-HP (Assistance Publique-Hôpitaux de Paris), Public Health Department, Henri Mondor University Hospital, Créteil, France; AP-HP (Assistance Publique-Hôpitaux de Paris), French Referral Centre for Cardiac Amyloidosis, Cardiogen Network, Henri Mondor University Hospital, Créteil, France; AP-HP (Assistance Publique-Hôpitaux de Paris), GRC Amyloid Research Institute, Henri Mondor University Hospital, Créteil, France; Univ Paris Est Creteil, INSERM, IMRB, Créteil, France.
AP-HP (Assistance Publique-Hôpitaux de Paris), French Referral Centre for Cardiac Amyloidosis, Cardiogen Network, Henri Mondor University Hospital, Créteil, France; AP-HP (Assistance Publique-Hôpitaux de Paris), GRC Amyloid Research Institute, Henri Mondor University Hospital, Créteil, France; Univ Paris Est Creteil, INSERM, IMRB, Créteil, France; AP-HP (Assistance Publique-Hôpitaux de Paris), Cardiology Department, Henri Mondor University Hospital, Créteil, France.
J Am Coll Cardiol. 2021 Nov 30;78(22):2177-2192. doi: 10.1016/j.jacc.2021.09.858.
Cardiac amyloidosis (CA) is a set of amyloid diseases with usually predominant cardiac symptoms, including light-chain amyloidosis (AL), hereditary variant transthyretin amyloidosis (ATTRv), and wild-type transthyretin amyloidosis (ATTRwt). CA are characterized by high heterogeneity in phenotypes leading to diagnosis delay and worsened outcomes.
The authors used clustering analysis to identify typical clinical profiles in a large population of patients with suspected CA.
Data were collected from the French Referral Center for Cardiac Amyloidosis database (Hôpital Henri Mondor, Créteil), including 1,394 patients with suspected CA between 2010 and 2018: 345 (25%) had a diagnosis of AL, 263 (19%) ATTRv, 402 (29%) ATTRwt, and 384 (28%) no amyloidosis. Based on comprehensive clinicobiological phenotyping, unsupervised clustering analyses were performed by artificial neural network-based self-organizing maps to identify patient profiles (clusters) with similar characteristics, independent of the final diagnosis and prognosis.
Mean age and left ventricular ejection fraction were 72 ± 13 years and 52% ± 13%, respectively. The authors identified 7 clusters of patients with contrasting profiles and prognosis. AL patients were distinctively located within a typical cluster; ATTRv patients were distributed across 4 clusters with varying clinical presentations, 1 of which overlapped with patients without amyloidosis; interestingly, ATTRwt patients spread across 3 distinct clusters with contrasting risk factors, biological profiles, and prognosis.
Clustering analysis identified 7 clinical profiles with varying characteristics, prognosis, and associations with diagnosis. Especially in patients with ATTRwt, these results suggest key areas to improve amyloidosis diagnosis and stratify prognosis depending on associated risk factors.
心脏淀粉样变性（CA）是一组以心脏症状为主的淀粉样变性疾病，包括轻链淀粉样变性（AL）、遗传性变异转甲状腺素蛋白淀粉样变性（ATTRv）和野生型转甲状腺素蛋白淀粉样变性（ATTRwt）。CA 的表型具有高度异质性，导致诊断延迟和预后恶化。
作者使用聚类分析在疑似 CA 患者的大人群中识别典型的临床特征。
数据来自法国心脏淀粉样变性参考中心数据库（Créteil 的 Henri Mondor 医院），包括 2010 年至 2018 年间的 1394 例疑似 CA 患者：345 例（25%）诊断为 AL，263 例（19%）ATTRv，402 例（29%）ATTRwt，384 例（28%）无淀粉样变性。基于全面的临床生物学表型，使用基于人工神经网络的自组织映射进行无监督聚类分析，以识别具有相似特征的患者特征（簇），而不依赖于最终诊断和预后。
平均年龄和左心室射血分数分别为 72 ± 13 岁和 52% ± 13%。作者确定了 7 个具有不同特征和预后的患者群。AL 患者明显位于典型簇中；ATTRv 患者分布在 4 个具有不同临床表现的簇中，其中 1 个与无淀粉样变性患者重叠；有趣的是，ATTRwt 患者分布在 3 个具有不同风险因素、生物学特征和预后的不同簇中。
聚类分析确定了 7 个具有不同特征、预后和与诊断相关的临床特征。特别是在 ATTRwt 患者中，这些结果表明需要在诊断和分层预后方面改善淀粉样变性诊断和评估相关风险因素的关键领域。
