Recovery of cardiac function in cardiomyopathy due to titin truncation
File(s)
Accepted version
Author(s)
Type
Journal Article
Abstract
Dilated cardiomyopathy (DCM) is a frequent cause of heart failure and a common indication for heart transplantation. Dilated cardiomyopathy has a strong genetic basis, and the most common disease-causing mutations are variants that truncate the sarcomeric protein titin (TTN-truncating variants [TTNtvs] are prevalent in 25%1 of familial DCM cases and 13%2 of idiopathic DCM cases). The prognosis of DCM is poor, but functional recovery from end-stage failure has been reported following both optimal medical therapy3 and left ventricular assist device (LVAD) support,4,5 although the determinants of successful recovery are unknown. It has been proposed that recovery from genetic cardiomyopathy may not be expected because the underlying cause is irreversible, whereas recovery may be more likely when DCM is caused by reversible, nongenetic factors (eg, myocarditis).6 To address this directly, we sequenced TTN in patients with end-stage DCM who either recovered or did not recover following LVAD support.
Date Issued
2016-04-06
Date Acceptance
2016-02-08
Citation
JAMA Cardiology, 2016, 1 (2), pp.234-235
ISSN
2380-6583
Publisher
American Medical Association
Start Page
234
End Page
235
Journal / Book Title
JAMA Cardiology
Volume
1
Issue
2
Copyright Statement
Copyright 2016 American Medical Association. All rights reserved.
Sponsor
Heart Research UK
Fondation Leducq
Wellcome Trust
Grant Number
RG2596/11/13
11 CVD-01
107469/Z/15/Z
Publication Status
Published