Hostname: page-component-78c5997874-mlc7c Total loading time: 0 Render date: 2024-11-17T21:21:07.316Z Has data issue: false hasContentIssue false
  • English
  • Français

Mutations in the cardiac Troponin C gene are a cause of idiopathic dilated cardiomyopathy in childhood

Published online by Cambridge University Press:  01 November 2007

Juan Pablo Kaski ,
Michael Burch  and
Perry M. Elliott
Juan Pablo Kaski*
Affiliation:
Inherited Cardiovascular Diseases Unit, Great Ormond Street Hospital and The Heart Hospital, University College London, United Kingdom
Michael Burch
Affiliation:
Inherited Cardiovascular Diseases Unit, Great Ormond Street Hospital and The Heart Hospital, University College London, United Kingdom
Perry M. Elliott
Affiliation:
Inherited Cardiovascular Diseases Unit, Great Ormond Street Hospital and The Heart Hospital, University College London, United Kingdom
*
Correspondence to: Dr Juan Pablo Kaski, Inherited Cardiovascular Diseases Unit, Great Ormond Street Hospital, Great Ormond Street, London WC1N 3JH. Tel: +44 (0)20 7405 9200 ext 5418; Fax: +44 (0)20 7762 6727; E-mail: [email protected]
Get access Rights & Permissions [Opens in a new window]

Abstract

The role of familial disease in childhood dilated cardiomyopathy is unknown. A novel mutation in the cardiac Troponin C gene has been identified recently in a family with dilated cardiomyopathy. Here we present a subsequent case of dilated cardiomyopathy occurring in a child from the same family, and emphasise the implications for future screening and counselling.

Keywords

Paediatricsheart failuresarcomere protein gene
Type
Brief Report
Information
Cardiology in the Young , Volume 17 , Issue 6 , December 2007 , pp. 675 - 677
Copyright
Copyright © Cambridge University Press 2007

Access options

Get access to the full version of this content by using one of the access options below. (Log in options will check for institutional or personal access. Content may require purchase if you do not have access.)

References

1. Boucek, MM, Edwards, LB, Keck, BM, Trulock, EP, Taylor, DO, Hertz, MI. Registry for the International Society for Heart and Lung Transplantation: Seventh official pediatric report -- 2004. J Heart Lung Transplant 2004; 23: 933–947.CrossRefGoogle ScholarPubMed
2. Kamisago, M, Sharma, SD, DePalma, SR, et al. . Mutations in sarcomere protein genes as a cause of dilated cardiomyopathy. N Engl J Med 2000; 343: 1688–1696.CrossRefGoogle ScholarPubMed
3. Mogensen, J, Murphy, RT, Shaw, T, et al. . Severe disease expression of cardiac troponin C and T mutations in patients with idiopathic dilated cardiomyopathy. J Am Coll Cardiol 2004; 44: 2033–2040.CrossRefGoogle Scholar
4. Calabrese, FMD, Rigo, EMD, Milanesi, OMD, et al. . Molecular diagnosis of myocarditis and dilated cardiomyopathy in children: clinicopathologic features and prognostic implications. Diagn Mol Pathol 2002; 11: 212–221.CrossRefGoogle ScholarPubMed
5. Waagstein, F, Hjalmarson, A, Swedberg, K, et al. . Beneficial effects of metoprolol in idiopathic dilated cardiomyopathy. Lancet 1993; 342: 1441–1446.CrossRefGoogle ScholarPubMed