目的:心脏淀粉样变性(CA)是一种潜在的致命性多系统疾病,仍未得到明显的诊断,特别是在中东。本研究旨在评估沙特阿拉伯三级中心高危人群中CA的患病率和临床特征。
方法:这个横截面,回顾性,单中心研究是在利雅得的一家三级医院进行的,沙特阿拉伯。我们回顾了2018年8月至2022年7月期间出现的心力衰竭患者的医疗记录,这些患者表现出CA的危险信号,随后接受了CA筛查。提示检查的危险信号至少包括以下两个因素:单侧或双侧腕管综合征的存在,甲状腺素运载蛋白淀粉样蛋白(ATTR)淀粉样变性家族史和特定的心电图特征(相对/绝对低QRS电压,假性梗塞模式和房室/室间传导异常)。超声心动图危险信号主要包括壁厚增加(≥12mm),显著的舒张功能障碍,左心室(LV)纵向功能降低,右心室(RV)功能障碍和右心房(RA)/肺动脉(PA)压力升高。心脏磁共振(CMR)危险信号包括与超声心动图以及心内膜下或透壁晚期钆增强(LGE)模式相似的方面。这些患者通过99m焦磷酸盐([99mTc]Tc-PYP)骨闪烁显像术评估CA,血清和尿蛋白电泳免疫固定和无血清轻链测定。
结果:共筛查了177名患者,其中21.0例(11.9%)患者被诊断为甲状腺素运载蛋白淀粉样蛋白CA(ATTR-CA),13例(7.3%)患者被诊断为轻链CA(AL-CA)。与阴性/模棱两可的[99mTc]Tc-PYP扫描(0-1级)患者相比,[99mTc]Tc-PYP扫描阳性(2-3级)的患者年龄较大(78.0vs.68.0年,P<0.001),肌钙蛋白(P=0.003)和N末端脑钠肽前体(NT-proBNP)(P<0.001),左心室质量指数较高(P<0.001),显示总体纵向应变(GLS)更低(P<0.001),相对心尖保留模式的患病率更高(P<0.001),并显示一级房室传导阻滞(P=0.008)和心电图低电压模式(P<0.001)的发生率更高。与其他心力衰竭病因相比,ATTR-CA和AL-CA患者更有可能在CMR上出现心内膜下或透壁LGE模式(P<0.001),并且总生存期明显较低(P<0.001)。
结论:这是第一个描述中东和沙特阿拉伯CA的临床特征和结果的研究。此处筛查的心力衰竭患者中CA的患病率与主要的国际研究一致,提示该地区严重的诊断不足。因此,迫切需要更大规模的多中心研究和区域筛查计划,以准确描述中东CA的流行病学和结局.
OBJECTIVE: Cardiac amyloidosis (CA) is a potentially fatal multisystemic disease that remains significantly underdiagnosed, particularly in the Middle East. This study aims to evaluate the prevalence and clinical characteristics of CA in a high-risk population at a tertiary centre in Saudi Arabia.
METHODS: This cross-sectional, retrospective, single-centre study was conducted at a tertiary hospital in Riyadh, Saudi Arabia. We reviewed the medical records of heart failure patients seen between August 2018 and July 2022 who exhibited red flags for CA and subsequently underwent CA screening. Red flags that prompted the workup included at least two of the following factors: the presence of unilateral or bilateral carpal tunnel syndrome, a family history of transthyretin amyloid (ATTR) amyloidosis and specific electrocardiographic features (relative/absolute low QRS voltage, pseudoinfarct pattern and atrioventricular/interventricular conduction abnormalities). Echocardiographic red flags included mainly increased wall thickness (≥12 mm), significant diastolic dysfunction, reduced left ventricular (LV) longitudinal function, right ventricular (RV) dysfunction and elevated right atrial (RA)/pulmonary artery (PA) pressure. Cardiac magnetic resonance (CMR) red flags included aspects similar to those in an echocardiogram as well as a subendocardial or transmural late gadolinium enhancement (LGE) pattern. These patients were assessed for CA through technetium-99m pyrophosphate ([99mTc]Tc-PYP) bone scintigraphy, serum and urine protein electrophoresis with immunofixation and a serum-free light chain assay.
RESULTS: A total of 177 patients were screened, of which 21.0 (11.9%) patients were diagnosed with transthyretin amyloid CA (ATTR-CA) and 13 (7.3%) patients were diagnosed with light chain CA (AL-CA). Compared with patients with negative/equivocal [99mTc]Tc-PYP scans (grades 0-1), patients with positive [99mTc]Tc-PYP scans (grades 2-3) were older (78.0 vs. 68.0 years, P < 0.001), had higher levels of troponin (P = 0.003) and N-terminal pro-brain natriuretic peptide (NT-proBNP) (P < 0.001), had a higher LV mass index (P < 0.001), displayed a more depressed global longitudinal strain (GLS) (P < 0.001) with a greater prevalence of a relative apical sparing pattern (P < 0.001) and demonstrated a higher incidence of first-degree atrioventricular block (P = 0.008) and low voltage patterns on electrocardiography (P < 0.001). Patients with ATTR-CA and AL-CA were more likely to have a subendocardial or transmural LGE pattern on CMR (P < 0.001) and had a significantly lower overall survival (P < 0.001) when compared with other heart failure aetiologies.
CONCLUSIONS: This is the first study to describe the clinical characteristics and outcomes of CA in the Middle East and Saudi Arabia. The prevalence of CA among screened heart failure patients here aligns with major international studies, suggesting significant underdiagnosis in the region. Therefore, larger multicentric studies and regional screening programmes are urgently needed to accurately characterize the epidemiology and outcomes of CA in the Middle East.