Oghina S, Delbarre M A, Poullot E, Belhadj K, Fanen P, Damy T
Service de cardiologie, Centre Hospitalier Universitaire Henri-Mondor, AP-HP (Assistance Publique-Hôpitaux de Paris), 1, rue Gustave-Eiffel, 94010 Créteil, France; Centre de référence national des amyloses cardiaques et réseau amylose Mondor, Filière Cardiogen, Centre Hospitalier Universitaire Henri-Mondor, AP-HP (Assistance Publique-Hôpitaux de Paris), 1, rue Gustave-Eiffel, 94010 Créteil, France.
Service de cardiologie, Centre Hospitalier Universitaire Henri-Mondor, AP-HP (Assistance Publique-Hôpitaux de Paris), 1, rue Gustave-Eiffel, 94010 Créteil, France; Centre de référence national des amyloses cardiaques et réseau amylose Mondor, Filière Cardiogen, Centre Hospitalier Universitaire Henri-Mondor, AP-HP (Assistance Publique-Hôpitaux de Paris), 1, rue Gustave-Eiffel, 94010 Créteil, France.
Rev Med Interne. 2022 Sep;43(9):537-544. doi: 10.1016/j.revmed.2022.04.036. Epub 2022 Jul 21.
The 3 main types of cardiac amyloidosis are linked to two protein precursors: AL amyloidosis secondary to free light chain deposits in the context of monoclonal gammopathy (mainly of undetermined significance or myeloma) and transthyretin amyloidosis (ATTR), comprising wild-type transthyretin amyloidosis (ATTRwt for wild type) and hereditary transthyretin amyloidosis (ATTRv for variant). These diseases are underdiagnosed and highly prevalent in common cardiac phenotypes in recent studies (heart failure with preserved ejection fraction, severe aortic stenosis, hypertrophic cardiomyopathy). Myocardial amyloid infiltration affects all cardiac structures and clinically promotes predominantly heart failure, conductive disorders and cardioembolic events. The search for extracardiac signs makes it possible to arouse diagnostic suspicion. Electrocardiogram, echocardiography and cardiac MRI can suspect cardiac amyloidosis. The diagnostic confirmation follows a simple algorithm including a systematic search for monoclonal gammapathy and a disphosphonate scintigraphy. Histological proof is necessary in case of AL or ATTR amyloidosis with concomitant monoclonal gammopathy in order to initiate specific treatment. Due to the late disease onset in ATTRv, genetic testing must be routine in all cases of ATTR. These diseases are no longer perceived as incurable since recent therapeutic innovations. A better knowledge of the disease is more than ever necessary.
心脏淀粉样变性的3种主要类型与两种蛋白质前体有关:继发于单克隆丙种球蛋白病(主要意义未明或骨髓瘤)背景下游离轻链沉积的AL淀粉样变性,以及转甲状腺素蛋白淀粉样变性(ATTR),包括野生型转甲状腺素蛋白淀粉样变性(野生型为ATTRwt)和遗传性转甲状腺素蛋白淀粉样变性(变异型为ATTRv)。在最近的研究中,这些疾病在常见心脏表型(射血分数保留的心力衰竭、严重主动脉瓣狭窄、肥厚型心肌病)中诊断不足且高度流行。心肌淀粉样浸润影响所有心脏结构,临床上主要促进心力衰竭、传导障碍和心脏栓塞事件。寻找心外体征有助于引起诊断怀疑。心电图、超声心动图和心脏磁共振成像可怀疑心脏淀粉样变性。诊断确认遵循一个简单的算法,包括系统寻找单克隆丙种球蛋白病和双膦酸盐闪烁扫描。对于伴有单克隆丙种球蛋白病的AL或ATTR淀粉样变性,为了启动特异性治疗,组织学证据是必要的。由于ATTRv发病较晚,在所有ATTR病例中,基因检测必须作为常规检查。自从最近有了治疗创新,这些疾病不再被认为是无法治愈的。对这种疾病有更好的了解比以往任何时候都更加必要。