Isolated heart transplantation for familial transthyretin (TTR) V122I cardiac amyloidosis

被引：12

作者：

Thenappan, Thenappan ^{[1
]}

Fedson, Savitri ^{[1
]}

Rich, Jonathan ^{[2
]}

Murks, Catherine ^{[1
]}

Husain, Aliya ^{[3
]}

Pogoriler, Jennifer ^{[3
]}

Anderson, Allen S. ^{[2
]}

机构：

[1] Univ Chicago, Dept Med, Cardiol Sect, Chicago, IL 60637 USA

[2] Northwestern Univ, Dept Med, Div Cardiol, Feinberg Sch Med, Chicago, IL 60611 USA

[3] Univ Chicago, Dept Pathol, Chicago, IL 60637 USA

来源：

AMYLOID-JOURNAL OF PROTEIN FOLDING DISORDERS | 2014年 / 21卷 / 02期

关键词：

Endomyocardial biopsy; heart failure; liver transplantation; DIAGNOSIS;

D O I：

10.3109/13506129.2013.853660

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

Transthyretin (TTR) cardiac amyloidosis is characterized by deposition of either mutant or wild type TTR amyloid protein in the myocardium ultimately leading to progressive cardiomyopathy and heart failure. The most common TTR gene mutation that leads to TTR cardiac amyloidosis is the valine-to-isoleucine substitution at position 122 (V122I or Ile122). Currently, the only definitive treatment suggested for mutant TTR cardiac amyloidosis is the combined or sequential liver-heart transplantation in eligible patients, since liver is the source of TTR production. Here, we report a case of heterozygous Val122L mutated TTR-related cardiac amyloidosis treated with isolated heart transplantation with no recurrence of amyloid in the cardiac allograft and no systemic abnormalities 5 years after heart transplantation.

引用

页码：120 / 123

页数：4

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