Updates in cardiac amyloidosis: a review.
Updates in cardiac amyloidosis: a review.
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DOI：
10.1161/jaha.111.000364
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发表时间：
2012-04
影响因子：
5.4
通讯作者：
Wechalekar AD
中科院分区：
文献类型：
--
作者：
Banypersad SM;Moon JC;Whelan C;Hawkins PN;Wechalekar AD
系统性淀粉样变性是一种相对罕见的多系统疾病，由错误折叠的蛋白质在各种组织和器官中沉积引起。它可能出现在几乎所有的专业，诊断往往被推迟。1心脏受累是发病率和死亡率的主要原因，特别是在原发性轻链（AL）淀粉样变性以及野生型和遗传性甲状腺素运载蛋白淀粉样变性中。心脏也偶尔涉及获得性血清淀粉样蛋白A型（AA）淀粉样变性和其他罕见的遗传类型。不同类型的淀粉样变性病的临床表型差异很大，甚至心脏表现也有很大的谱。淀粉样变性的发病率尚不确定，但据认为，在英国和美国，最常诊断的AL淀粉样变性的年发病率为每百万人口6至10例。甲状腺素运载蛋白沉积（ATTR）引起的淀粉样变性可以是野生型甲状腺素运载蛋白淀粉样沉积，主要积聚在心脏中，在老年人尸检中非常常见。虽然相关的临床综合征被称为老年系统性淀粉样变性是诊断很少在生活中，2有越来越多的证据表明，这种疾病是诊断不足，随着寿命的增加和改进的诊断方法，它可能被确定为一个重大的公共卫生问题。使用成像的新型诊断和监视方法（超声心动图、心血管磁共振）、生物标志物（脑钠肽[BNP]，高敏肌钙蛋白），新的组织学分型技术，以及当前和未来的治疗，包括直接靶向淀粉样蛋白沉积的方法。3
Systemic amyloidosis is a relatively rare multisystem disease caused by the deposition of misfolded protein in various tissues and organs. It may present to almost any specialty, and diagnosis is frequently delayed. 1 Cardiac involvement is a leading cause of morbidity and mortality, especially in primary light chain (AL) amyloidosis and in both wild-type and hereditary transthyretin amyloidosis. The heart is also occasionally involved in acquired serum amyloid A type (AA) amyloidosis and other rare hereditary types. Clinical phenotype varies greatly between different types of amyloidosis, and even the cardiac presentation has a great spectrum. The incidence of amyloidosis is uncertain, but it is thought that the most frequently diagnosed AL amyloidosis has an annual incidence of 6 to 10 cases per million population in the United Kingdom and United States. Amyloidosis due to transthyretin deposition (ATTR) can be wild-type transthyretin amyloid deposits, which predominantly accumulate in the heart and are very common at autopsy in the elderly. Although the associated clinical syndrome known as senile systemic amyloidosis is diagnosed rarely in life, 2 there is increasing evidence that this disorder is much underdiagnosed and that with increasing longevity and improved diagnostic methods it may be identified as a substantial public health problem.This review focuses on recent progress in the field: novel diagnostic and surveillance approaches using imaging (echocardiography, cardiovascular magnetic resonance), biomarkers (brain natriuretic peptide [BNP], high-sensitivity troponin), new histological typing techniques, and current and future treatments, including approaches directly targeting the amyloid deposits. 3