Titin truncating mutations: A rare cause of dilated cardiomyopathy in the young

Fatkin, Diane and Lam, Lien and Herman, Daniel S and Benson, Craig C and Felkin, Leanne E and Barton, Paul J R and Walsh, Roddy and Candan, Sukru and Ware, James S and Roberts, Angharad M and Chung, Wendy and Smoot, Leslie and Bornaun, Helen and Keogh, Anne M and Macdonald, Peter S and Hayward, Christopher S and Seidman, Jonathan G and Roberts, Amy E and Cook, Stuart A and Seidman, Christine E (2016) Titin truncating mutations: A rare cause of dilated cardiomyopathy in the young. Progress in Pediatric Cardiology, 40. pp.41-45. ISSN 1058-9813 (PP OA)

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Abstract

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.

Item Type: Article
Additional Information: Published: March 2016
Subjects: R Medicine > R Medicine (General)
Depositing User: Repository Administrator
Date Deposited: 19 Oct 2016 00:57
Last Modified: 15 Jan 2018 21:27
URI: https://eprints.victorchang.edu.au/id/eprint/502

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