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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: j.kaski@ucl.ac.uk
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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

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References

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