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

被引：16

作者：

Kaski, Juan Pablo ^{[1
,2
]}

Burch, Michael ^{[1
,2
]}

Elliott, Perry M. ^{[1
,2
]}

机构：

[1] Great Ormond St Hosp Sick Children, Inherited Cardiovasc Dis Unit, London WC1N 3JH, England

[2] UCL, Heart Hosp, London, England

来源：

CARDIOLOGY IN THE YOUNG | 2007年 / 17卷 / 06期

关键词：

paediatrics; heart failure; sarcomere protein gene;

D O I：

10.1017/S1047951107001291

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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.

引用

页码：675 / 677

页数：3

共 5 条

[1] Registry for the International Society for Heart and Lung Transplantation: Seventh official pediatric report - 2004 [J].