Department of Cardiomyopathy, National Institute of Cardiology, Warszawa, Poland.
Rapid Diagnosis Department, National Institute of Cardiology, Warszawa, Poland.
Kardiol Pol. 2023;81(12):1227-1236. doi: 10.33963/v.kp.97879. Epub 2023 Nov 8.
Numerous prognostic factors have been proposed for cardiac amyloidosis (CA). The knowledge about other subtypes of restrictive cardiomyopathy (RCM) is scant.
This study aimed to elucidate the etiology and prognostic factors of RCM as well as assess cardiac biomarkers: high-sensitive troponin T (hs-TnT), growth differentiation factor-15 (GDF-15), N-terminal pro-B-type natriuretic peptide (NT-proBNP), and soluble suppression of tumorigenicity 2, as mortality predictors in RCM.
We enrolled 36 RCM patients in our tertiary cardiac department. All patients were screened for CA. Genetic testing was performed in 17 patients without CA.
Pathogenic or likely pathogenic gene variants were found in 86% of patients, including 5 novel variants. Twenty patients died, and 4 had a heart transplantation during the study. Median overall survival was 29 months (8-55). The univariate Cox models analysis indicated that systolic and diastolic blood pressure, GDF-15, hs-TnT, NT-proBNP, left ventricular stroke volume, the ratio of the transmitral early peak velocity (E) estimated by pulsed wave Doppler over the early mitral annulus velocity (e'), tricuspid annulus plane systolic excursion, early tricuspid valve annular systolic velocity, the presence of pulmonary hypertension, and pericardial effusion influenced survival (P <0.05). A worse prognosis was observed in patients with GDF-15 >1316 pg/ml, hs-TnT >42 ng/l, NT-proBNP >3383 pg/ml, and pericardial effusion >3.5 mm (Kaplan-Meier analysis, log-rank test, P <0.001).
Genetic testing should be considered in every RCM patient where light-chain amyloidosis has been excluded. Survival remains poor regardless of etiology. Increased concentrations of GDF-15, hs-TNT, NT-proBNP, and pericardial effusion are associated with worse prognosis. Further studies are warranted.
已经提出了许多用于心脏淀粉样变性（CA）的预后因素。关于其他限制型心肌病（RCM）亚型的知识很少。
本研究旨在阐明 RCM 的病因和预后因素，并评估心脏生物标志物：高敏肌钙蛋白 T（hs-TnT）、生长分化因子 15（GDF-15）、N 末端 pro-B 型利钠肽（NT-proBNP）和可溶性肿瘤抑制因子 2，作为 RCM 患者的死亡预测因子。
我们在我们的三级心脏科招募了 36 名 RCM 患者。所有患者均筛查 CA。对无 CA 的 17 名患者进行了基因检测。
发现 86%的患者存在致病性或可能致病性基因突变，包括 5 种新变异。20 名患者死亡，4 名患者在研究期间进行了心脏移植。中位总生存期为 29 个月（8-55）。单变量 Cox 模型分析表明，收缩压和舒张压、GDF-15、hs-TnT、NT-proBNP、左心室射血分数、脉冲波多普勒估计的二尖瓣早期峰值速度（E）与二尖瓣环早期运动速度（e'）的比值、三尖瓣环平面收缩期位移、早期三尖瓣瓣环收缩速度、肺动脉高压和心包积液影响生存（P<0.05）。GDF-15>1316pg/ml、hs-TnT>42ng/l、NT-proBNP>3383pg/ml 和心包积液>3.5mm 的患者预后较差（Kaplan-Meier 分析，对数秩检验，P<0.001）。
排除轻链淀粉样变性后，应考虑对每个 RCM 患者进行基因检测。无论病因如何，生存仍然很差。GDF-15、hs-TnT、NT-proBNP 和心包积液浓度增加与预后不良相关。需要进一步研究。
