Dąbrowski Emil Julian, Kozłowska Wiktoria Urszula, Lipska Patrycja Oliwia, Matys Urszula, Pogorzelski Szymon, Kożuch Marcin, Dobrzycki Sławomir
Department of Invasive Cardiology, Medical University of Białystok, 15-089 Białystok, Poland.
Diagnostics (Basel). 2024 Dec 13;14(24):2812. doi: 10.3390/diagnostics14242812.
Cardiac transthyretin amyloidosis is an underdiagnosed disorder with significant diagnostic difficulties due to its non-specific clinical manifestations. It is caused by the deposition of protein aggregates with an abnormal tertiary structure in the extracellular matrix. Their accumulation leads to the development of hypertrophic and restrictive cardiomyopathy and, at a later stage, heart failure with preserved ejection fraction syndrome. Depending on the pathogenesis, there are different types of the disease-hereditary and age-related wild-type transthyretin amyloidosis. We present the case of an 85-year-old woman who was referred to the department with a two-month history of exertional dyspnea in New York Heart Association functional class II. After reviewing the initial findings, several red flags for cardiac amyloidosis (CA) were identified. Following the diagnostic algorithm, scintigraphy was performed and showed significant radioisotope accumulation in the myocardium, confirming the suspected disease. In this manuscript, we present the current recommendations and diagnostic pathway, discussing in detail both available and emerging treatment options. As early diagnosis is essential to prevent the development of serious complications, we would like to highlight the pitfalls in diagnosing CA and emphasize the need to be aware of its variable clinical presentation and red flags.
心脏转甲状腺素蛋白淀粉样变性是一种诊断不足的疾病,因其临床表现不具特异性而存在显著的诊断困难。它是由具有异常三级结构的蛋白质聚集体在细胞外基质中沉积所致。这些聚集体的积累会导致肥厚性和限制性心肌病的发展,在后期还会引发射血分数保留的心力衰竭综合征。根据发病机制,该疾病有不同类型——遗传性和年龄相关的野生型转甲状腺素蛋白淀粉样变性。我们报告了一例85岁女性病例,她因纽约心脏协会心功能II级的劳力性呼吸困难病史两个月被转诊至该科室。在回顾初始检查结果后,发现了一些心脏淀粉样变性(CA)的警示信号。按照诊断流程,进行了闪烁扫描,结果显示心肌中有明显的放射性同位素积聚,证实了疑似疾病。在本手稿中,我们介绍了当前的建议和诊断途径,详细讨论了现有的和新出现的治疗方案。由于早期诊断对于预防严重并发症的发生至关重要,我们想强调CA诊断中的陷阱,并强调需要了解其多变的临床表现和警示信号。