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Cardiac features of a novel autosomal recessive dilated cardiomyopathic syndrome due to defective importation of mitochondrial protein

Published online by Cambridge University Press:  23 January 2007

Rebecca Sparkes ,
David Patton  and
Francois Bernier
Rebecca Sparkes
Affiliation:
Department of Medical Genetics, University of Calgary, Alberta, Canada
David Patton
Affiliation:
Division of Cardiology, Department of Pediatrics, University of Calgary, Alberta, Canada
Francois Bernier
Affiliation:
Department of Medical Genetics, University of Calgary, Alberta, Canada
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Abstract

Dilated cardiomyopathy as seen in children is clinically and genetically heterogeneous, with an increasing proportion of cases known to be caused by disorders of single genes. An autosomal recessive syndrome with a high incidence of dilated cardiomyopathy was recently described in the Canadian Dariusleut Hutterite population. It is caused by homozygous mutations in a novel gene, DNAJC19, presumed to play a role in importation of mitochondrial proteins. We discuss the cardiac features of this syndrome, and its relationship to cardiac mitochondrial function.

Keywords

Dilated cardiomyopathygeneticsmitochondrial disorders
Type
Brief Report
Information
Cardiology in the Young , Volume 17 , Issue 2 , April 2007 , pp. 215 - 217
Copyright
© 2007 Cambridge University Press

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