Idiopathic restrictive cardiomyopathy in children is caused by mutations in cardiac sarcomere protein genes

  title={Idiopathic restrictive cardiomyopathy in children is caused by mutations in cardiac sarcomere protein genes},
  author={Juan Pablo Kaski and Petros Syrris and Michael Burch and Mar{\'i}a Teresa Tom{\'e}-Esteban and Matthew J Fenton and Michael Christiansen and Paal Skytt Andersen and Neil James Sebire and Michael T. Ashworth and John Erik Deanfield and William J. McKenna and Perry M. Elliott},
  pages={1478 - 1484}
Background: Restrictive cardiomyopathy (RCM) is rare in childhood, but has a grave prognosis. The cause of disease in most cases is unknown. Objective: To determine the prevalence of sarcomere protein gene mutations in children with idiopathic RCM. Methods: Twelve patients (9 female, mean age 5.1 years) with idiopathic RCM referred between 1991 and August 2006 underwent detailed clinical and genetic evaluation. Nine had received cardiac transplants at the time of the study. The entire coding… 

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Cardiomyopathy in children

  • Su-chiung Chen
  • Medicine
    Current treatment options in cardiovascular medicine
  • 2001
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The demonstration of hypertrophic cardiomyopathy arising within a pedigree coincident with the appearance of a de novo mutation provides compelling genetic evidence that beta cardiac MHC mutations cause this disease.