Literature DB >> 21459272

Recommendations for the use of genetic testing in the clinical evaluation of inherited cardiac arrhythmias associated with sudden cardiac death: Canadian Cardiovascular Society/Canadian Heart Rhythm Society joint position paper.

Michael H Gollob1, Louis Blier, Ramon Brugada, Jean Champagne, Vijay Chauhan, Sean Connors, Martin Gardner, Martin S Green, Robert Gow, Robert Hamilton, Louise Harris, Jeff S Healey, Kathleen Hodgkinson, Christina Honeywell, Michael Kantoch, Joel Kirsh, Andrew Krahn, Michelle Mullen, Ratika Parkash, Damian Redfearn, Julie Rutberg, Shubhayan Sanatani, Anna Woo.   

Abstract

The era of gene discovery and molecular medicine has had a significant impact on clinical practice. Knowledge of specific genetic findings causative for or associated with human disease may enhance diagnostic accuracy and influence treatment decisions. In cardiovascular disease, gene discovery for inherited arrhythmia syndromes has advanced most rapidly. The arrhythmia specialist is often confronted with the challenge of diagnosing and managing genetic arrhythmia syndromes. There is now a clear need for guidelines on the appropriate use of genetic testing for the most common genetic conditions associated with a risk of sudden cardiac death. This document represents the first ever published recommendations outlining the role of genetic testing in various clinical scenarios, the specific genes to be considered for testing, and the utility of test results in the management of patients and their families.
Copyright © 2011 American Society for Histocompatibility and Immunogenetics. Published by Elsevier Inc. All rights reserved.

Entities:  

Mesh:

Year:  2011        PMID: 21459272     DOI: 10.1016/j.cjca.2010.12.078

Source DB:  PubMed          Journal:  Can J Cardiol        ISSN: 0828-282X            Impact factor:   5.223


  44 in total

Review 1.  Inherited calcium channelopathies in the pathophysiology of arrhythmias.

Authors:  Luigi Venetucci; Marco Denegri; Carlo Napolitano; Silvia G Priori
Journal:  Nat Rev Cardiol       Date:  2012-06-26       Impact factor: 32.419

2.  Case Report: Direct Access Genetic Testing and A False-Positive Result For Long QT Syndrome.

Authors:  Sarah Predham; Sara Hamilton; Alison M Elliott; William T Gibson
Journal:  J Genet Couns       Date:  2015-08-30       Impact factor: 2.537

3.  "Awakening to" a new meaning of being at-risk for arrhythmogenic right ventricular cardiomyopathy: a grounded theory study.

Authors:  April Manuel; Fern Brunger
Journal:  J Community Genet       Date:  2015-01-27

Review 4.  Management of survivors of cardiac arrest - the importance of genetic investigation.

Authors:  Peter J Schwartz; Federica Dagradi
Journal:  Nat Rev Cardiol       Date:  2016-07-07       Impact factor: 32.419

5.  Exome sequencing and systems biology converge to identify novel mutations in the L-type calcium channel, CACNA1C, linked to autosomal dominant long QT syndrome.

Authors:  Nicole J Boczek; Jabe M Best; David J Tester; John R Giudicessi; Sumit Middha; Jared M Evans; Timothy J Kamp; Michael J Ackerman
Journal:  Circ Cardiovasc Genet       Date:  2013-06

6.  The accessibility and utilization of genetic testing for inherited heart rhythm disorders: a Canadian cross-sectional survey study.

Authors:  Thomas M Roston; Laura Dewar; Sonia Franciosi; Julie Hathaway; Kirsten Bartels; Taylor Cunningham; Karen A Gibbs; Sam Sheps; Zachary W M Laksman; Shubhayan Sanatani; Andrew D Krahn
Journal:  J Community Genet       Date:  2017-11-23

7.  Assessing arrhythmia risk in a 15-year-old boy whose father died suddenly.

Authors:  Paul Dorian; Andrew D Krahn
Journal:  CMAJ       Date:  2016-07-18       Impact factor: 8.262

8.  Temporal relationship of conduction system disease and ventricular dysfunction in LMNA cardiomyopathy.

Authors:  Chad Brodt; Jill D Siegfried; Mark Hofmeyer; Jose Martel; Evadnie Rampersaud; Duanxiang Li; Ana Morales; Ray E Hershberger
Journal:  J Card Fail       Date:  2013-04       Impact factor: 5.712

9.  Spectrum and prevalence of mutations involving BrS1- through BrS12-susceptibility genes in a cohort of unrelated patients referred for Brugada syndrome genetic testing: implications for genetic testing.

Authors:  Lia Crotti; Cherisse A Marcou; David J Tester; Silvia Castelletti; John R Giudicessi; Margherita Torchio; Argelia Medeiros-Domingo; Savastano Simone; Melissa L Will; Federica Dagradi; Peter J Schwartz; Michael J Ackerman
Journal:  J Am Coll Cardiol       Date:  2012-07-25       Impact factor: 24.094

10.  Return of genetic results in the familial dilated cardiomyopathy research project.

Authors:  Jill D Siegfried; Ana Morales; Jessica D Kushner; Emily Burkett; Jason Cowan; Ana Clara Mauro; Gordon S Huggins; Duanxiang Li; Nadine Norton; Ray E Hershberger
Journal:  J Genet Couns       Date:  2012-08-11       Impact factor: 2.537

View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.