Truncating Titin (TTN) Variants in Chemotherapy-Induced Cardiomyopathy

被引：58

作者：

Linschoten, M. ^{[1
]}

Teske, A. I. ^{[1
]}

Baas, A. F. ^{[2
]}

Vink, A. ^{[3
]}

Dooijes, D. ^{[2
]}

Baars, H. F. ^{[4
]}

Asselbergs, F. W. ^{[1
,5
,6
,7
,8
]}

机构：

[1] Univ Med Ctr Utrecht, Div Heart & Lungs, Dept Cardiol, Room E03-511,POB 85500, NL-3508 GA Utrecht, Netherlands

[2] Univ Med Ctr Utrecht, Dept Genet, Utrecht, Netherlands

[3] Univ Med Ctr Utrecht, Dept Pathol, Utrecht, Netherlands

[4] Elisabeth TweeSteden Ziekenhuis, Dept Cardiol, Tilburg, Netherlands

[5] Netherlands Heart Inst, Durrer Ctr Cardiovasc Res, Utrecht, Netherlands

[6] UCL, Fac Populat Hlth Sci, Inst Cardiovasc Sci, London, England

[7] UCL, Farr Inst Hlth Informat Res, London, England

[8] UCL, Inst Hlth Informat, London, England

来源：

JOURNAL OF CARDIAC FAILURE | 2017年 / 23卷 / 06期

关键词：

Cardiotoxicity; chemotherapy; heart failure; genetics; CARDIOTOXICITY;

D O I：

10.1016/j.cardfail.2017.03.003

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Chemotherapy-induced cardiomyopathy (CCMP) is a complication of chemotherapy treatment occurring in 9% of patients treated with the use of anthracyclines. Currently, risk stratification is based on clinical risk factors that do not adequately account for variable individual susceptibility. This suggests the presence of other determinants. In this case series, we describe 2 women with breast cancer who developed severe heart failure within months after chemotherapy. Genetic screening revealed truncating frameshift mutations in TTN, encoding the myofilament titin, in both women. To our knowledge, this is the 1st report of an association between truncating ITN variants and CCMP. Because truncations in TTN are the most common cause of familial and sporadic dilated cardiomyopathy, further research is needed to establish their prevalence in patients presenting with CCMP.

引用

页码：476 / 479

页数：4

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