Unidad de Insuficiencia Cardíaca y Cardiopatías Familiares, Servicio de Cardiología, Hospital Universitario Puerta de Hierro Majadahonda, Madrid, España; Centro de Investigación Biomédica en Red de Enfermedades Cardiovasculares (CIBERCV), Madrid, España; Universidad Francisco de Vitoria (UFV), Pozuelo de Alarcón, España.
Unidad de Insuficiencia Cardíaca y Cardiopatías Familiares, Servicio de Cardiología, Hospital Universitario Puerta de Hierro Majadahonda, Madrid, España; Centro de Investigación Biomédica en Red de Enfermedades Cardiovasculares (CIBERCV), Madrid, España.
Med Clin (Barc). 2021 Feb 12;156(3):126-134. doi: 10.1016/j.medcli.2020.06.064. Epub 2020 Oct 31.
Transthyretin (TTR) cardiac amyloidosis is a severe, progressive, infiltrative disease caused by the deposition of TTR at cardiac level. It may be due to a genetic alteration in its hereditary form (ATTRv) or as a consequence of an age-related degenerative process (ATTRwt). Thanks to advances in imaging techniques and the possibility of achieving a non-invasive diagnosis, we now know that ATTR is more frequent than traditionally considered and that it is particularly relevant in patients over 65 years with heart failure or with aortic stenosis. With the appearance of several treatment options capable of modifying the natural history of ATTR, it is necessary for clinicians to be familiar with the diagnostic process and treatment of this disease. This review will cover the clinical spectrum of presentation of ATTR, its diagnosis and treatment.
转甲状腺素蛋白（TTR）心脏淀粉样变是一种由 TTR 在心脏水平沉积引起的严重、进行性、浸润性疾病。它可能是由于其遗传性形式（ATTRv）中的遗传改变，或作为与年龄相关的退行性过程（ATTRwt）的结果。由于成像技术的进步和实现非侵入性诊断的可能性，我们现在知道ATTR 比传统上认为的更为常见，并且在 65 岁以上有心衰或主动脉瓣狭窄的患者中尤为重要。随着几种能够改变ATTR 自然史的治疗选择的出现，临床医生必须熟悉这种疾病的诊断过程和治疗方法。这篇综述将涵盖ATTR 的临床表现、诊断和治疗。
