Kristen Arnt V
Kardiovaskuläres Zentrum Darmstadt, Ärztehaus 2 Mathildenhöhe, Dieburger Straße 31c, 64287, Darmstadt, Germany.
Klinik für Innere Medizin III (Kardiologie, Angiologie, Pneumologie), Medizinische Klinik, Universitätsklinik Heidelberg, Im Neuenheimer Feld 410, 69120, Heidelberg, Germany.
Herz. 2020 May;45(3):267-271. doi: 10.1007/s00059-020-04904-4.
Cardiac amyloidosis is a heterogeneous group of diseases characterized by extracellular deposition of amyloid fibrils in many different organs finally resulting in organ failure. Cardiac involvement is common for immunoglobulin light chain amyloidosis (AL) or transthyretin amyloidosis (ATTR); the latter is caused by a transthyretin gene variant or wild-type protein. Precise diagnostic assessment including laboratory tests, electrocardiography, echocardiography, cardiac magnetic resonance imaging, biopsy, and/or bone scintigraphy is mandatory for definition of the amyloid type and finally for treatment initiation. Treatment of cardiac amyloidosis includes symptomatic therapy of heart failure as well as the underlying disease. Causative treatment of AL amyloidosis is according to regimens used for multiple myeloma. For many years, orthotopic liver transplantation was the only treatment available for hereditary ATTR amyloidosis, but important advances have been made after approval of a novel class of medication, namely, RNA silencers. However, currently no treatment is available to remove amyloid deposited in the tissue. Thus, early diagnosis is still critical to afford the best efficacy of available therapies.
心脏淀粉样变性是一组异质性疾病，其特征是淀粉样原纤维在许多不同器官中细胞外沉积，最终导致器官衰竭。免疫球蛋白轻链淀粉样变性（AL）或转甲状腺素蛋白淀粉样变性（ATTR）常累及心脏；后者由转甲状腺素蛋白基因变异或野生型蛋白引起。精确的诊断评估，包括实验室检查、心电图、超声心动图、心脏磁共振成像、活检和/或骨闪烁显像，对于确定淀粉样变性类型以及最终开始治疗是必不可少的。心脏淀粉样变性的治疗包括心力衰竭的对症治疗以及基础疾病的治疗。AL淀粉样变性的病因治疗按照用于多发性骨髓瘤的方案进行。多年来，原位肝移植是遗传性ATTR淀粉样变性唯一可用的治疗方法，但在一类新型药物即RNA沉默剂获批后取得了重要进展。然而，目前尚无治疗方法可去除沉积在组织中的淀粉样物质。因此，早期诊断对于使现有疗法发挥最佳疗效仍然至关重要。
