Imperial College London
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DrAngharadRoberts

Faculty of Medicine, National Heart & Lung Institute

Clinical Senior Lecturer in Cardiovascular Genetics
 
 
 
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Contact

 

+44 (0)20 3313 8313angharad.roberts Website

 
 
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Location

 

Cardiovascular Genetics and GenomicsSydney StreetRoyal Brompton Campus

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Summary

 

Publications

Citation

BibTex format

@article{Fatkin:2016:10.1016/j.ppedcard.2016.01.003,
author = {Fatkin, D and Lam, L and Herman, DS and Benson, CC and Felkin, LE and Barton, PJR and Walsh, R and Candan, S and Ware, JS and Roberts, AM and Chung, WK and Smoot, L and Bornaun, H and Keogh, AM and Macdonald, PS and Hayward, CS and Seidman, JG and Roberts, AE and Cook, SA and Seidman, CE},
doi = {10.1016/j.ppedcard.2016.01.003},
journal = {Progress in Pediatric Cardiology},
pages = {41--45},
title = {Titin truncating mutations: a rare cause of dilated cardiomyopathy in the young},
url = {http://dx.doi.org/10.1016/j.ppedcard.2016.01.003},
volume = {40},
year = {2016}
}
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RIS format (EndNote, RefMan)

TY  - JOUR
AB  - Truncating mutations in the TTN gene are the most common genetic cause of dilated cardiomyopathy in adults but their role in young patients is unknown. We studied 82 young dilated cardiomyopathy subjects and found that the prevalence of truncating TTN mutations in adolescents was similar to adults, but surprisingly few truncating TTN mutations were identified in affected children, including one confirmed de novo variant. In several cases, truncating TTN mutations in children with dilated cardiomyopathy had evidence of additional clinical or genetic risk factors. These findings have implications for genetic testing and suggest that single truncating TTN mutations are insufficient alone to cause pediatric-onset dilated cardiomyopathy.
AU  - Fatkin,D
AU  - Lam,L
AU  - Herman,DS
AU  - Benson,CC
AU  - Felkin,LE
AU  - Barton,PJR
AU  - Walsh,R
AU  - Candan,S
AU  - Ware,JS
AU  - Roberts,AM
AU  - Chung,WK
AU  - Smoot,L
AU  - Bornaun,H
AU  - Keogh,AM
AU  - Macdonald,PS
AU  - Hayward,CS
AU  - Seidman,JG
AU  - Roberts,AE
AU  - Cook,SA
AU  - Seidman,CE
DO  - 10.1016/j.ppedcard.2016.01.003
EP  - 45
PY  - 2016///
SN  - 1058-9813
SP  - 41
TI  - Titin truncating mutations: a rare cause of dilated cardiomyopathy in the young
T2  - Progress in Pediatric Cardiology
UR  - http://dx.doi.org/10.1016/j.ppedcard.2016.01.003
UR  - http://hdl.handle.net/10044/1/39013
VL  - 40
ER  -
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