Golubovskaya D P, Dren' E V, Yurkina A V, Pecherina T B, Barbarash O L
Research Institute of Complex Problems of Cardiovascular Diseases.
Ter Arkh. 2024 Jul 30;96(7):695-700. doi: 10.26442/00403660.2024.07.202784.
Despite the presence of various signs of cardiac amyloidosis ("red flags"), the introduction into routine practice of new non-invasive diagnostic methods (Speckle Tracking technology using echocardiography, myocardial scintigraphy with technetium pyrophosphate, genetic testing, screening for free light chains of immunoglobulins to exclude AL-amyloidosis), which have high specificity and sensitivity, transthyretinic (ATTR) cardiomyopathy is still a difficult to diagnose disease, especially in the early stages when treatment is most effective. The article presents a clinical case of ATTR-amyloidosis with predominant heart damage, manifested by severe diastolic heart failure resistant to treatment. The timing, from the moment of the first episode of decompensation of heart failure to death, is 4 months, which confirms the rapid progression of severe biventricular dysfunction of the heart. Despite the presence of cardiac and extracardial "red flags" of ATTR-amyloidosis in the patient, the diagnosis was established at autopsy. The paper analyzes possible errors of early diagnosis at the outpatient and inpatient stages of patient management.
尽管存在各种心脏淀粉样变性的体征（“红旗征”），新型非侵入性诊断方法（使用超声心动图的斑点追踪技术、焦磷酸锝心肌闪烁显像、基因检测、筛查免疫球蛋白游离轻链以排除AL淀粉样变性）已应用于常规实践，这些方法具有高特异性和敏感性，但转甲状腺素蛋白（ATTR）心肌病仍然是一种难以诊断的疾病，尤其是在治疗最有效的早期阶段。本文介绍了一例以心脏损害为主的ATTR淀粉样变性临床病例，表现为严重的舒张性心力衰竭，治疗无效。从心力衰竭首次失代偿发作到死亡的时间为4个月，这证实了严重双心室功能障碍的快速进展。尽管该患者存在ATTR淀粉样变性的心脏和心外“红旗征”，但诊断是在尸检时确立的。本文分析了患者管理门诊和住院阶段早期诊断可能出现的错误。
