Failure of ICD therapy in lethal arrhythmogenic right ventricular cardiomyopathy type 5 caused by the p.Ser358Leu mutation.

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作者信息

Aalbæk Kjærgaard Kasper, Kristensen Jens, Mølgaard Henning, Cosedis Nielsen Jens, Jensen Henrik Kjærulf

机构信息

Department of Cardiology, Aarhus University Hospital, Aarhus, Denmark.

出版信息

HeartRhythm Case Rep. 2016 Mar 4;2(3):217-222. doi: 10.1016/j.hrcr.2015.12.009. eCollection 2016 May.

DOI:10.1016/j.hrcr.2015.12.009

PMID:28491673

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5419751/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9656/5419751/1b46c9ee58c2/gr1.jpg

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本文引用的文献

Arrhythmogenic cardiomyopathy: diagnosis, genetic background, and risk management.

Neth Heart J. 2014 Aug;22(7-8):316-25. doi: 10.1007/s12471-014-0563-7.

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Eur Heart J. 2015 Apr 7;36(14):872-81. doi: 10.1093/eurheartj/ehu077. Epub 2014 Mar 4.

Arrhythmogenic right ventricular cardiomyopathy.

Circ Arrhythm Electrophysiol. 2012 Dec;5(6):1233-46. doi: 10.1161/CIRCEP.111.962035. Epub 2012 Sep 27.

The natural history of a genetic subtype of arrhythmogenic right ventricular cardiomyopathy caused by a p.S358L mutation in TMEM43.

Clin Genet. 2013 Apr;83(4):321-31. doi: 10.1111/j.1399-0004.2012.01919.x. Epub 2012 Aug 13.

Functional effects of the TMEM43 Ser358Leu mutation in the pathogenesis of arrhythmogenic right ventricular cardiomyopathy.

BMC Med Genet. 2012 Mar 29;13:21. doi: 10.1186/1471-2350-13-21.

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