Heart transplantation for homozygous familial transthyretin (TTR) V122I cardiac amyloidosis
Heart transplantation for homozygous familial transthyretin (TTR) V122I cardiac amyloidosis
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DOI：
10.1111/j.1600-6143.2008.02162.x
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发表时间：
2008-05-01
影响因子：
8.8
通讯作者：
Banner, N. R.
中科院分区：
文献类型：
--
作者：
Hamour, I. M.;Lachmann, H. J.;Banner, N. R.
心力衰竭是淀粉样心肌病患者的常见死亡原因。最常见的遗传性心脏淀粉样变性与甲状腺素运载蛋白 (TTR) 的 Val122Ile 变体有关，3-4% 的非洲裔美国人携带这种变体。在这里，我们报告了 TTR V122I 患者首次心脏移植的结果。一名 59 岁的加勒比男子出现双心室衰竭。除了之前的双侧腕管综合征外，他一直身体状况良好，没有任何心外淀粉样变性的证据。心内膜心肌活检显示 TTR 型淀粉样蛋白。 TTR 基因的测序表明V122I 是纯合的。他接受了心脏移植，三年后，情况仍然良好，没有同种异体移植或系统性淀粉样蛋白沉积的证据。
Heart failure is the usual cause of death in patients with amyloid cardiomyopathy. The commonest form of hereditary cardiac amyloidosis is associated with the Val122Ile variant of transthyretin (TTR), which is carried by 3-4% of the African American population. Here, we report the outcome of the first cardiac transplantation in a patient with TTR V122I. A 59-year-old Caribbean man presented with biventricular failure. Other than previous bilateral carpel tunnel syndrome, he had been well and had no evidence of extracardiac amyloidosis. An endomyocardial biopsy demonstrated amyloid of TTR type. Sequencing of TTR gene indicated homozygosity for V122I. He underwent cardiac transplantation and 3 years later, remains well with no evidence of allograft or systemic amyloid deposition.