Instituto do Coração do Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, SP - Brasil.
Universidade de São Paulo - Instituto do Câncer de São Paulo Octavio Frias de Oliveira, São Paulo, SP - Brasil.
Arq Bras Cardiol. 2022 Feb;118(2):422-432. doi: 10.36660/abc.20201003.
Systemic amyloidosis is a disease with heterogeneous clinical manifestations. Diagnosis depends on clinical suspicion combined with specific complementary methods.
To describe the clinical, laboratory, electrocardiographic, and imaging profile in patients with systemic amyloidosis with cardiac involvement.
This study was conducted with a convenience sample, analyzing clinical, laboratory, electrocardiographic, echocardiographic, nuclear medicine, and magnetic resonance data. Statistical significance was set at p < 0.05.
A total of 105 patients were evaluated (median age of 66 years), 62 of whom were male. Of all patients, 83 had transthyretin (ATTR) amyloidosis, and 22 had light chain (AL) amyloidosis. With respect to ATTR cases, 68.7% were the hereditary form (ATTRh), and 31.3% were wild type (ATTRw). The most prevalent mutations were Val142Ile (45.6%) and Val50Met (40.3%). Time from onset of symptoms to diagnosis was 0.54 and 2.15 years, in the AL and ATTR forms, respectively (p < 0.001). Cardiac involvement was observed in 77.9% of patients with ATTR and in 90.9% of those with AL. Alterations were observed in atrioventricular and intraventricular conduction in 20% and 27.6% of patients, respectively, with 33.7% in ATTR and 4.5% in AL (p = 0.006). In the ATTRw form, there were more atrial arrhythmias than in ATTRh (61.5% versus 22.8%; p = 0.001). On echocardiogram, median septum thickness in ATTRw, ATTRh, and AL was 15 mm, 12 mm, and 11 mm, respectively (p = 0.193). Elevated BNP was observed in 89.5% of patients (median 249, ICR 597.7), and elevated troponin was observed in 43.2%.
In this setting, it was possible to characterize cardiac involvement in systemic amyloidosis in its different subtypes by means of clinical history and the diagnostic methods described.
系统性淀粉样变性是一种临床表现异质性的疾病。诊断取决于临床怀疑与特定的补充方法相结合。
描述伴有心脏受累的系统性淀粉样变性患者的临床、实验室、心电图和影像学特征。
本研究采用方便样本，分析了临床、实验室、心电图、超声心动图、核医学和磁共振数据。统计学意义设定为 p<0.05。
共评估了 105 例患者（中位年龄 66 岁），其中 62 例为男性。所有患者中，83 例为转甲状腺素（TRT）淀粉样变性，22 例为轻链（AL）淀粉样变性。在 ATTR 病例中，68.7%为遗传性形式（ATTRh），31.3%为野生型（ATTRw）。最常见的突变是 Val142Ile（45.6%）和 Val50Met（40.3%）。症状出现到诊断的时间分别为 0.54 年和 2.15 年，在 AL 和 ATTR 形式中（p<0.001）。77.9%的 ATTR 患者和 90.9%的 AL 患者存在心脏受累。房室和室内传导异常分别见于 20%和 27.6%的患者，ATTR 为 33.7%，AL 为 4.5%（p=0.006）。在 ATTRw 形式中，房性心律失常比 ATTRh 更常见（61.5%比 22.8%；p=0.001）。超声心动图上，ATTRw、ATTRh 和 AL 的中隔厚度中位数分别为 15mm、12mm 和 11mm（p=0.193）。89.5%的患者 BNP 升高（中位数 249，ICR 597.7），43.2%的患者肌钙蛋白升高。
在这种情况下，可以通过临床病史和描述的诊断方法对系统性淀粉样变性的不同亚型进行心脏受累的特征描述。
