Özpelit Ebru, Çavuşoğlu Yüksel, Babur Güler Gamze, Ünlü Serkan, Yıldırımtürk Özlem, Çiçek Yılmaz Dilek, Örem Cihan, Başarıcı İbrahim, Tüfekçioğlu Omaç, Tokgözoğlu Lale, Karakulak Uğur Nadir, Dinçer İrem, Çapa Kaya Gamze, Ak Sivriöz İlknur, Murat Selda, Güler Arda, Çolak Ayşe, Şahin Mürsel, Kaplan Elmas, Akaslan Dursun, Türer Cabbar Ayçe, Sünbül Murat, Kaya Yüksel, Zorkun Cafer Sadık, Vatansever Ağca Fahriye, İkitimur Barış, Onbaşılı Alper, Kılıçgedik Alev, Altay Hakan, Eroğlu Büyüköner Elif, Değertekin Muzaffer
Department of Cardiology, Dokuz Eylül University, Faculty of Medicine, İzmir, Türkiye.
Department of Cardiology, Eskişehir Osmangazi University Faculty of Medicine, Eskişehir, Türkiye.
Anatol J Cardiol. 2025 Aug 14. doi: 10.14744/AnatolJCardiol.2025.4942.
Cardiac amyloidosis (CA) is an increasingly recognized disease. Several recent advanced imaging techniques and parameters have been introduced into the diagnosis of CA. However, the first step in using those techniques is clinical suspicion. Left ventricular hypertrophy (LVH) is the main entity in rising the suspicion of CA in routine echocardiography, although it is not a diagnosis for CA. The aim of this study is to investigate the prevalence of CA and its subtypes and predictive value of clinical and echocardiographic red flags of CA among consecutive adult patients with LVH identified during routine echocardiographic examination in 25 tertiary institutions in Türkiye.
This was a prospective observational multicenter, national registration study. Patients with LVH (interventricular septum thickness ≥13 mm or >15 mm in those with hypertension) were screened for CA stepwise. The first step was a clinical questionnaire for the red flags of CA. Those having ≥2 red flags were further analyzed by detailed echocardiography, blood tests, Tc-pyrophosphate (PYP) bone scintigraphy, and histopathological examination if needed. Parameters associated with CA were evaluated via univariate and multivariate analyses. Wild-type transthyretin (wTTR) vs. mutant-type TTR (mTTR), CA discriminators were also evaluated in the same manner.
A total of 420 patients meeting these criteria were included in the study. With a standardized algorithmic approach, 27.1% (114) of patients received a CA diagnosis. Among these patients with CA, 50.8% (58) were diagnosed with immunoglobulin free chain (AL) CA, 38.6% (44) with wTTR CA, and 7% (8) with mTTR CA. Left ventricular apical sparing pattern and restrictive type LV filling on echocardiography, low QRS voltage on ECG, bilateral carpal tunnel syndrome, low blood pressure, right ventricular diameter, and an increased basal heart rate (HR) were independent predictors for CA diagnosis. When it comes to diagnosis of wTTR CA; advanced age (age >75), lower troponin values, absence of pericardial effusion and absence of proteinuria were the independent predictors.
Cardiac amyloidosis is highly prevalent in a patient population with LVH and 2 red flags who underwent a standardized algorithmic approach, in which apical sparing, restrictive filling pattern, low QRS voltage, carpal tunnel syndrome, low blood pressure, and increased HR are the highly suggestive signs of CA. Among this pool of newly diagnosed CA patients in Türkiye, AL-CA constituted 50.8%, wTTR CA 38.6%, and mTTR CA 7%, emphasizing that approximately 1 in 2 patients diagnosed with CA may have TTR CA.
心脏淀粉样变性（CA）是一种日益受到认可的疾病。最近有几种先进的成像技术和参数被引入到CA的诊断中。然而，使用这些技术的第一步是临床怀疑。左心室肥厚（LVH）是在常规超声心动图检查中提高对CA怀疑的主要因素，尽管它不是CA的诊断标准。本研究的目的是调查在土耳其25家三级医疗机构进行常规超声心动图检查时发现的连续性成年LVH患者中CA及其亚型的患病率，以及CA临床和超声心动图警示信号的预测价值。
这是一项前瞻性观察性多中心全国注册研究。对LVH（室间隔厚度≥13 mm，高血压患者≥15 mm）患者进行逐步CA筛查。第一步是针对CA警示信号的临床问卷调查。有≥2个警示信号的患者进一步通过详细的超声心动图、血液检查、锝-焦磷酸盐（PYP）骨闪烁显像以及必要时的组织病理学检查进行分析。通过单因素和多因素分析评估与CA相关的参数。野生型转甲状腺素蛋白（wTTR）与突变型TTR（mTTR），CA鉴别指标也以同样方式进行评估。
共有420例符合这些标准的患者纳入研究。采用标准化算法方法，27.1%（114例）患者被诊断为CA。在这些CA患者中，50.8%（58例）被诊断为免疫球蛋白轻链（AL）型CA，38.6%（44例）为wTTR型CA，7%（8例）为mTTR型CA。超声心动图上的左心室心尖部保留模式和限制性左心室充盈、心电图上的低QRS电压、双侧腕管综合征、低血压、右心室直径以及基础心率（HR）增加是CA诊断的独立预测因素。对于wTTR型CA的诊断，高龄（年龄>75岁）、较低的肌钙蛋白值、无心包积液和无蛋白尿是独立预测因素。
在接受标准化算法方法检查的有LVH且有2个警示信号的患者群体中，心脏淀粉样变性非常普遍，其中心尖部保留、限制性充盈模式、低QRS电压、腕管综合征、低血压和心率增加是CA的高度提示性征象。在土耳其新诊断的这组CA患者中，AL型CA占50.8%，wTTR型CA占38.6%，mTTR型CA占7%，强调每2例诊断为CA的患者中约有1例可能患有TTR型CA。
