Imperial College London

Dr Nicky Whiffin

Faculty of MedicineNational Heart & Lung Institute








Hammersmith HospitalHammersmith Campus






BibTex format

author = {Corden, B and Jarman, J and Whiffin, N and Tayal, U and Buchan, R and Sehmi, J and Harper, A and Midwinter, W and Lascelles, K and Mason, M and Baksi, J and Pantazis, A and Pennell, D and Barton, P and Prasad, S and Wong, T and Cook, S and Ware, J},
doi = {10.1001/jamanetworkopen.2019.6520},
journal = {JAMA Network Open},
pages = {1--12},
title = {Association between titin truncating variants and life-threatening cardiac arrhythmias in patients with dilated cardiomyopathy and implantable defibrillator},
url = {},
volume = {2},
year = {2019}

RIS format (EndNote, RefMan)

AB - Importance There is a need for better arrhythmic risk stratification in nonischemic dilated cardiomyopathy (DCM). Titin-truncating variants (TTNtvs) in the TTN gene are the most common genetic cause of DCM and may be associated with higher risk of arrhythmias in patients with DCM.Objective To determine if TTNtv status is associated with the development of life-threatening ventricular arrhythmia and new persistent atrial fibrillation in patients with DCM and implanted cardioverter defibrillator (ICD) or cardiac resynchronization therapy defibrillator (CRT-D) devices.Design, Setting, and Participants This retrospective, multicenter cohort study recruited 148 patients with or without TTNtvs who had nonischemic DCM and ICD or CRT-D devices from secondary and tertiary cardiology clinics in the United Kingdom from February 1, 2011, to June 30, 2016, with a median (interquartile range) follow-up of 4.2 (2.1-6.5) years. Exclusion criteria were ischemic cardiomyopathy, primary valve disease, congenital heart disease, or a known or likely pathogenic variant in the lamin A/C gene. Analyses were performed February 1, 2017, to May 31, 2017.Main Outcome and Measures The primary outcome was time to first device-treated ventricular tachycardia of more than 200 beats/min or first device-treated ventricular fibrillation. Secondary outcome measures included time to first development of persistent atrial fibrillation.Results Of 148 patients recruited, 117 adult patients with nonischemic DCM and an ICD or CRT-D device (mean [SD] age, 56.9 [12.5] years; 76 [65.0%] men; 106 patients [90.6%] with primary prevention indications) were included. Having a TTNtv was associated with a higher risk of receiving appropriate ICD therapy (shock or antitachycardia pacing) for ventricular tachycardia or fibrillation (hazard ratio [HR], 4.9; 95% CI, 2.2-10.7; P < .001). This association was independent of all covariates, including midwall fibrosis measured by late gadolinium enhanc
AU - Corden,B
AU - Jarman,J
AU - Whiffin,N
AU - Tayal,U
AU - Buchan,R
AU - Sehmi,J
AU - Harper,A
AU - Midwinter,W
AU - Lascelles,K
AU - Mason,M
AU - Baksi,J
AU - Pantazis,A
AU - Pennell,D
AU - Barton,P
AU - Prasad,S
AU - Wong,T
AU - Cook,S
AU - Ware,J
DO - 10.1001/jamanetworkopen.2019.6520
EP - 12
PY - 2019///
SN - 2574-3805
SP - 1
TI - Association between titin truncating variants and life-threatening cardiac arrhythmias in patients with dilated cardiomyopathy and implantable defibrillator
T2 - JAMA Network Open
UR -
UR -
UR -
VL - 2
ER -