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Copyright ©The Author(s) 2016. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Cardiol. Feb 26, 2016; 8(2): 180-191
Published online Feb 26, 2016. doi: 10.4330/wjc.v8.i2.180
Genetic testing in congenital heart disease: A clinical approach
Marie A Chaix, Gregor Andelfinger, Paul Khairy
Marie A Chaix, Paul Khairy, Montreal Heart Institute Adult Congenital Center, Université de Montréal, Montreal, Quebec H1T 1C8, Canada
Gregor Andelfinger, Sainte-Justine University Hospital, Université de Montréal, Montreal, Quebec H1T 1C8, Canada
Author contributions: Chaix MA, Andelfinger G and Khairy P fulfill ICMJE authorship criteria based on substantial contributions to conception and design, acquisition of data, or analysis and interpretation of data; drafting the article or revising it critically for important intellectual content; and final approval of the version to be published.
Supported by A Canada research chair in electrophysiology and adult congenital heart disease (Paul Khairy).
Conflict-of-interest statement: The authors declare no conflicts of interest regarding this manuscript.
Open-Access: This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/
Correspondence to: Dr. Paul Khairy, Montreal Heart Institute Adult Congenital Center, Université de Montréal, 5000 Belanger St. E, Montreal, Quebec H1T 1C8, Canada. paul.khairy@umontreal.ca
Telephone: +1-514-3763330 Fax: +1-514-5932551
Received: June 8, 2015
Peer-review started: June 10, 2015
First decision: September 18, 2015
Revised: October 16, 2015
Accepted: December 9, 2015
Article in press: December 11, 2015
Published online: February 26, 2016
Processing time: 259 Days and 2.8 Hours
Core Tip

Core tip: Monogenic models and chromosomal abnormalities have been associated with syndromic and non-syndromic forms of congenital heart disease (CHD), paving the way for genetic investigation and testing to shoulder an important role in patient management. Herein, we present an overview of the role of genetics in CHD, propose various clinical scenarios in which genetic testing may be appropriate, and discuss practical implications with regards to when and how to order genetic tests. Summary tables are provided regarding the various genes implicated in syndromic and non-syndromic forms of CHD and recurrence risks in siblings and offspring.