Amyloid diseases of the heart: assessment, diagnosis, and referral
Amyloid diseases of the heart: assessment, diagnosis, and referral
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DOI：
10.1136/hrt.2009.190405
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发表时间：
2011-01-01
期刊：
影响因子：
5.7
通讯作者：
Falk, R. H.
中科院分区：
文献类型：
--
作者：
Dubrey, S. W.;Hawkins, P. N.;Falk, R. H.
淀粉样变性是一组疾病，淀粉样蛋白是一种蛋白质物质，沉积在一个或多个器官中。在人类中已经描述了多达23种不同的淀粉样蛋白形成的前体蛋白。这些细胞可能会在选定的组织内沉积在纤维基质中。当通常可溶的成分发生转变并错误折叠，变得相对不溶时，就会形成纤维。多种机制促进了这些变化，导致了非分枝纤维沉积的最终共同途径，电子显微镜可以看到这些纤维，在光学显微镜下可以看到它们是一种均匀的细胞外物质(图1)。在发达国家，心脏病专家主要遇到影响心脏的三种主要类型的淀粉样变性：轻链淀粉样变性(AL)、老年性系统性淀粉样变性(SSA)和家族性淀粉样变性(FAP)；后者最常见的原因是转甲状腺素的突变。在发展中国家，由于慢性感染和未得到充分治疗的炎症条件，继发性淀粉样蛋白(AA)更为普遍。在世界各地和以后的生活中，另一种影响心脏的淀粉样蛋白类型是孤立的心房淀粉样蛋白(IAA)。W1和W2最后是非转甲状腺素变异体，包括纤维蛋白原、载脂蛋白和明胶蛋白的突变，这是很少见的。这些较罕见的类型可导致严重的心脏损害。心脏受累于淀粉样变性通常是全身性疾病的一部分。心脏通常是主要的受累器官，但在某些形式的疾病中，可能会发生孤立的心脏受累。在非心脏活检显示淀粉样蛋白沉积的患者中，心脏受累已被第10届淀粉样变性国际研讨会1的共识意见定义为心脏活检阳性和/或在没有高血压或其他真正的左室肥大的潜在原因的情况下左室壁厚度(室间隔厚度12 mm)增加。早期诊断淀粉样变性是至关重要的，因为一旦出现临床上有意义的心脏病，预后极差。淀粉样蛋白沉积可能是一种进展非常迅速的疾病。如果不治疗，心肌壁增厚的进展速度可能在1.45e2之间。AL淀粉样变患者16 mm/月。2随着充血性心力衰竭的发展，可在6个月内死亡。W3延误诊断可能导致患者不适合进行最危重的
The amyloidoses are a group of diseases in which amyloid, a proteinaceous substance, deposits in one or more organs. As many as 23 different precursor proteins to the formation of amyloid have been described in man. These may deposit themselves in a fibrillar matrix within selected tissues. Fibrils are formed when normally soluble constituents undergo transformational change and misfold to become relatively insoluble. A variety of mechanisms promote these changes, which result in the final common pathway of the deposition of nonbranching fibrils that can be visualised by electron microscopy and which are seen on light microscopy as a homogenous extracellular material (figure 1). In the developed world, cardiologists predominantly encounter three main types of amyloidosis that affect the heart; light chain (AL) amyloidosis, senile systemic amyloidosis (SSA), and familial amyloidosis (FAP); the latter most commonly results from a mutation in transthyretin. In the developing world, secondary amyloid (AA) is more prevalent, due to chronic infections and inadequately treated inflammatory conditions. Occurring worldwide and later in life, a further amyloid type to affect the heart is isolated atrial amyloid (IAA). w1 w2 Finally, and much less common, are the non-transthyretin variants, including mutations of fibrinogen, apoprotein, and gelsolin. These rarer types can cause significant cardiac compromise. Cardiac involvement in amyloidosis is usually part of a systemic disease. The heart is frequently the predominant organ affected but, in some forms of the disease, isolated heart involvement can occur. In patients with a non-cardiac biopsy showing amyloid deposition, cardiac involvement has been defineddby a consensus opinion from the 10th International Symposium on Amyloidosis1 das either a positive heart biopsy and or/increased left ventricular wall thickness (interventricular septal thickness> 12 mm) in the absence of hypertension or other potential causes of true left ventricular hypertrophy.Making an early diagnosis of amyloidosis is critical because, once clinically significant heart disease is present, the prognosis is extremely poor. Amyloid deposition can be a very rapidly progressive disease. Untreated, myocardial wall thickening can progress at rates of between 1.45 e2. 16 mm/month in patients with AL amyloid. 2 With the development of congestive cardiac failure, death can ensue within 6 months. w3 Delay in diagnosis may result in patients being unsuitable for the most intensive