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World J Cardiol. Nov 26, 2014; 6(11): 1156-1165
Published online Nov 26, 2014. doi: 10.4330/wjc.v6.i11.1156
Importance of genetic evaluation and testing in pediatric cardiomyopathy
Muhammad Tariq, Stephanie M Ware
Muhammad Tariq, Stephanie M Ware, Department of Pediatrics and Herman B Wells Center for Pediatric Research, Indiana University School of Medicine, Indianapolis, IN 46202, United States
Author contributions: Tariq M and Ware SM wrote and approved the manuscript.
Supported by The Children’s Cardiomyopathy Foundation; Cincinnati Children’s Hospital’s Clinical and Translational Science Award, No. NIH-ULlRR026314 (Ware SM); and AHA Postdoctoral Fellowship Award, No. 12POST10370002 (Tariq M)
Correspondence to: Stephanie M Ware, MD, PhD, Department of Pediatrics and Herman B Wells Center for Pediatric Research, Indiana University School of Medicine, 1044 W. Walnut Street Indianapolis, IN 46202, United States. stware@iu.edu
Telephone: +1-317-2748938 Fax: +1-317-2748679
Received: May 29, 2014
Revised: July 29, 2014
Accepted: September 4, 2014
Published online: November 26, 2014
Processing time: 186 Days and 10.2 Hours
Core Tip

Core tip: Pediatric cardiomyopathy is a clinically and genetically heterogeneous heart muscle disease with five major phenotypes: hypertrophic cardiomyopathy, dilated cardiomyopathy, restrictive cardiomyopathy, left ventricular noncompaction cardiomyopathy, and arrhythmogenic right ventricular cardiomyopathy. The genetic basis of these cardiomyopathies has been identified using traditional linkage analysis and sequencing. Novel gene discovery has been increased using modern next generation sequencing technologies, however the exact mechanisms of disease development are not fully known. In this review we focus on the current genetic knowledge of cardiomyopathies and their importance in diagnostic settings.