Hamour I M, Lachmann H J, Goodman H J B, Petrou M, Burke M M, Hawkins P N, Banner N R
Cardiology and Transplantation, The Royal Brompton and Harefield NHS Trust, Harefield Hospital, Harefield, Middlesex UB9 6JH, UK.
Am J Transplant. 2008 May;8(5):1056-9. doi: 10.1111/j.1600-6143.2008.02162.x. Epub 2008 Mar 2.
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.
心力衰竭是淀粉样心肌病患者常见的死亡原因。遗传性心脏淀粉样变性最常见的形式与转甲状腺素蛋白（TTR）的Val122Ile变异有关，非裔美国人中有3%-4%携带该变异。在此，我们报告了首例TTR V122I患者心脏移植的结果。一名59岁的加勒比男性因双心室衰竭就诊。除了既往双侧腕管综合征外，他身体状况良好，没有心外淀粉样变性的证据。心内膜活检显示为TTR型淀粉样变。TTR基因测序表明V122I纯合。他接受了心脏移植，3年后情况良好，没有同种异体移植或全身性淀粉样沉积的证据。
