European Journal of Human Genetics - Clinical utility gene card for: dilated cardiomyopathy (CMD)

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European Journal of Human Genetics - Clinical utility gene card for: dilated cardiomyopathy (CMD)

Clinical Utility Gene Card

European Journal of Human Genetics advance online publication 19 December 2012; doi: 10.1038/ejhg.2012.276

Clinical utility gene card for: dilated cardiomyopathy (CMD)

Anna Posafalvi^1,4, Johanna C Herkert^1,4, Richard J Sinke¹, Maarten P van den Berg², Jens Mogensen³, Jan D H Jongbloed¹ and J Peter van Tintelen¹

1. ¹Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands
2. ²Department of Cardiology, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands
3. ³Department of Cardiology, University of Southern Denmark, Odense, Denmark

Correspondence: Dr JP van Tintelen, Department of Genetics, University Medical Center Groningen, University of Groningen, PO Box 30001, Groningen 9700 RB, The Netherlands. Tel: +31 50 3617223 Fax: +31 50 3617231 E-mail: p.van.tintelen@umcg.nl

⁴These authors contributed equally to this work.

Received 3 September 2012; Revised 26 October 2012; Accepted 13 November 2012
Advance online publication 19 December 2012

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1. DISEASE CHARACTERISTICS

1.1 Name of the disease (synonyms)

Idiopathic dilated cardiomyopathy (IDC) is defined by the presence of left ventricular dilatation and systolic dysfunction in the absence of an underlying cause, such as hypertension, valve disease or coronary artery disease, sufficient to cause global systolic impairment.

Synonyms: dilated cardiomyopathy (DCM/CMD), dilated cardiomyopathy with conduction defect and/or arrhythmia, familial DCM/CMD, IDC, familial idiopathic cardiomyopathy and non-ischemic congestive heart failure.

1.2 OMIM# of the disease

115200 Cardiomyopathy, dilated, 1A; CMD1A.

600884 Cardiomyopathy, dilated, 1B; CMD1B.