Kubinova Nikol, Paleček Tomas, Mika Marek, Jaksa Radek, Linhart Ales
2nd Department of Medicine-Department of Cardiovascular Medicine, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, U Nemocnice 2, 128 08 Prague 2, Czech Republic.
Department of Internal Medicine, Hospital Strakonice, Strakonice, Czech Republic.
Wien Klin Wochenschr. 2025 May 13. doi: 10.1007/s00508-025-02540-8.
Wild-type transthyretin cardiac amyloidosis (ATTRwt CA) is increasingly recognized as an important cause of heart failure and arrhythmias in older people. There are several clinical, echocardiographic, electrocardiographic (ECG) and laboratory features that increase the suspicion for ATTRwt CA. Presentation and phenotype can, however, be associated with atypical findings making it difficult to make a correct diagnosis. A 65-year-old man was admitted for an acute coronary syndrome. Echocardiography revealed diffuse concentric left ventricular (LV) thickening. Because of a history of bilateral carpal tunnel syndrome and polyneuropathy, the patient underwent dedicated laboratory testing and diphosphonate scintigraphy the results of which were suggestive of transthyretin cardiac amyloidosis. Also, a dynamic LV outflow tract obstruction due to the systolic anterior motion of the anterior mitral valve was noted on echocardiography during the initial investigations. Genetic testing for hypertrophic cardiomyopathy was negative. Seeking a conclusive diagnosis, endomyocardial biopsy was performed. This confirmed the diagnosis of ATTRwt CA.
The presence of dynamic LV outflow tract obstruction is typically seen in patients with sarcomeric hypertrophic cardiomyopathy. It can be rarely seen also in individuals with cardiac amyloidosis, including ATTR-wt CA. The presence of so-called red flags in patients' history, physical examination, laboratory test, ECG and imaging should raise suspicion for other etiologies of LV wall thickening than hypertrophic cardiomyopathy. Although noninvasive diagnosis of ATTRwt CA is possible in most patients, endomyocardial biopsy remains necessary in cases with diagnostic ambiguity.
野生型转甲状腺素蛋白心脏淀粉样变性（ATTRwt CA）日益被认为是老年人心力衰竭和心律失常的重要原因。有几种临床、超声心动图、心电图（ECG）和实验室特征会增加对ATTRwt CA的怀疑。然而，其临床表现和表型可能与非典型发现相关，从而难以做出正确诊断。一名65岁男性因急性冠状动脉综合征入院。超声心动图显示左心室（LV）弥漫性向心性增厚。由于有双侧腕管综合征和多发性神经病变病史，该患者接受了专门的实验室检查和双膦酸盐闪烁扫描，结果提示转甲状腺素蛋白心脏淀粉样变性。此外，在初始检查期间的超声心动图检查中发现，由于二尖瓣前叶收缩期前向运动导致动态左心室流出道梗阻。肥厚型心肌病的基因检测结果为阴性。为寻求确定性诊断，进行了心内膜活检。这证实了ATTRwt CA的诊断。
动态左心室流出道梗阻通常见于肌节性肥厚型心肌病患者。在包括ATTR-wt CA在内的心脏淀粉样变性患者中也很少见。患者病史、体格检查、实验室检查、心电图和影像学检查中出现所谓的警示信号，应提高对左心室壁增厚除肥厚型心肌病之外其他病因的怀疑。尽管大多数患者可以进行ATTRwt CA的非侵入性诊断，但在诊断不明确的情况下，心内膜活检仍然是必要的。
