Nuclear tracers for transthyretin cardiac amyloidosis: time to bone up?
Nuclear tracers for transthyretin cardiac amyloidosis: time to bone up?
复制标题
转甲状腺素蛋白心脏淀粉样变性的核示踪剂：是时候骨干了吗？
DOI：
10.1161/circimaging.113.000178
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发表时间：
2013
期刊：
影响因子：
--
通讯作者：
E. Miller
中科院分区：
文献类型：
--
作者：
F. Ruberg;E. Miller
系统性淀粉样变性是蛋白质折叠障碍，其特征在于不溶性蛋白质聚集体在软组织、神经系统和实体器官中的沉积。淀粉样变性按前体蛋白分类，涉及心脏的最常见实体是轻链（AL）和甲状腺素运载蛋白（TTR）。虽然淀粉样变性的诊断需要组织活检显示特征性染色（通常为刚果红），但在提示性非侵入性检测和同时在另一器官或部位进行淀粉样蛋白的组织学鉴定的背景下，可以推断心脏淀粉样变性。1
文章见第195页
心脏淀粉样变性被广泛认为是一种罕见的实体，实际上，AL疾病是罕见的，估计发病率为100000/100000，在约50%的病例中观察到心脏受累。2，3 TTR淀粉样变性（ATTR），细分为遗传正常（野生型或老年性系统性淀粉样变性）或遗传异常（突变型/变异型或家族性淀粉样心肌病）可能比目前认识到的普遍得多。老年系统性淀粉样变性疾病几乎一致见于>60岁的男性。4尸检研究表明，高达25%的老年人存在野生型TTR淀粉样蛋白聚集体（>85岁），其中15%至15%具有广泛的沉积。5，6此外，TTR中最常见的遗传突变，在位置122处的缬氨酸至异亮氨酸取代（V122 I或Ile 122），在美国黑人中的流行率为3%至4%，似乎与老年黑人患者心力衰竭的发生有关。7因此，随着人口老龄化和寿命的增加，TTR心脏淀粉样变性（野生型和变异型）的发病率将可能增加。
淀粉样蛋白浸润导致进行性心室壁增厚、舒张功能障碍和射血分数保留的心力衰竭，这些发现常见于一般老年人群，通常归因于并存的高血压或高血压。
The systemic amyloidoses are disorders of protein folding that are characterized by the deposition of insoluble protein aggregates in soft tissue, the nervous system, and solid organs. Amyloidosis is categorized by precursor protein, the most common entities involving the heart being light chain (AL) and transthyretin (TTR). Although the diagnosis of amyloidosis requires a tissue biopsy that demonstrates characteristic staining (typically Congo red), cardiac amyloidosis can be inferred in the context of suggestive noninvasive testing and concurrent identification of amyloid, histologically in another organ or site.1
Article see p 195
Cardiac amyloidosis is widely held to be a rare entity, and indeed, AL disease is rare, with an estimated incidence of ≈1 in 100 000, with cardiac involvement seen in ≈50% of cases.2,3 TTR amyloidosis (ATTR), subclassified as genetically normal (wild-type or senile systemic amyloidosis) or genetically abnormal (mutant/variant or familial amyloid cardiomyopathy), may be much more prevalent than is presently appreciated. Senile systemic amyloidosis disease is almost uniformly seen in men >60 years of age.4 Autopsy studies have demonstrated the presence of wild-type TTR amyloid aggregates in up to 25% of the elderly (>85 years of age), with ≈5% to 15% having extensive deposition.5,6 Furthermore, the most common inherited mutation in TTR, a valine-to-isoleucine substitution at position 122 (V122I or Ile122), has an accepted prevalence of 3% to 4% among US blacks and seems to be associated with the development of heart failure in elderly black patients.7 Thus, as the population ages and longevity increases, the incidence of TTR cardiac amyloidosis, both wild type and variant, will likely increase.
Amyloid infiltration results in progressive ventricular wall thickening, diastolic dysfunction, and heart failure with preserved ejection fraction, findings common in the general aged population and typically attributed to coexistent hypertension or …
影响因子：
14
作者：
Mongeon, Francois-Pierre;Jerosch-Herold, Michael;Coelho-Filho, Otavio Rizzi;Blankstein, Ron;Falk, Rodney H.;Kwong, Raymond Y.
通讯作者：
Kwong, Raymond Y.