Literature DB >> 21934721

The Achilles' heel of cardiovascular genetic testing: distinguishing pathogenic mutations from background genetic noise.

A P Landstrom1, M J Ackerman.   

Abstract

Although the etiologies of sudden cardiac death (SCD) are diverse, genetic mutations associated with cardiomyopathic and channelopathic diseases are major causes, and clinically available genetic tests offer the potential to identify at-risk family members, contribute to risk stratification, and guide therapeutic intervention. Recently, the first large-scale systematic studies exploring the background genetic "noise" rate of these tests have been conducted and offer guidance in interpreting positive genetic test results.

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Year:  2011        PMID： 21934721      PMCID： PMC3495562          DOI： 10.1038/clpt.2011.192

Source DB:  PubMed          Journal:  Clin Pharmacol Ther        ISSN： 0009-9236            Impact factor:   6.875


  9 in total

1.  Distinguishing arrhythmogenic right ventricular cardiomyopathy/dysplasia-associated mutations from background genetic noise.

Authors:  Jamie D Kapplinger; Andrew P Landstrom; Benjamin A Salisbury; Thomas E Callis; Guido D Pollevick; David J Tester; Moniek G P J Cox; Zahir Bhuiyan; Hennie Bikker; Ans C P Wiesfeld; Richard N W Hauer; J Peter van Tintelen; Jan D H Jongbloed; Hugh Calkins; Daniel P Judge; Arthur A M Wilde; Michael J Ackerman
Journal:  J Am Coll Cardiol       Date:  2011-06-07       Impact factor: 24.094

2.  Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing.

Authors:  David J Tester; Melissa L Will; Carla M Haglund; Michael J Ackerman
Journal:  Heart Rhythm       Date:  2005-05       Impact factor: 6.343

Review 3.  Mutation type is not clinically useful in predicting prognosis in hypertrophic cardiomyopathy.

Authors:  Andrew P Landstrom; Michael J Ackerman
Journal:  Circulation       Date:  2010-12-07       Impact factor: 29.690

Review 4.  The role of molecular autopsy in unexplained sudden cardiac death.

Authors:  David J Tester; Michael J Ackerman
Journal:  Curr Opin Cardiol       Date:  2006-05       Impact factor: 2.161

5.  Yield of genetic testing in hypertrophic cardiomyopathy.

Authors:  Sara L Van Driest; Steve R Ommen; A Jamil Tajik; Bernard J Gersh; Michael J Ackerman
Journal:  Mayo Clin Proc       Date:  2005-06       Impact factor: 7.616

Review 6.  Role of genetic analysis in the management of patients with arrhythmogenic right ventricular dysplasia/cardiomyopathy.

Authors:  Srijita Sen-Chowdhry; Petros Syrris; William J McKenna
Journal:  J Am Coll Cardiol       Date:  2007-10-24       Impact factor: 24.094

7.  Effect of clinical phenotype on yield of long QT syndrome genetic testing.

Authors:  David J Tester; Melissa L Will; Carla M Haglund; Michael J Ackerman
Journal:  J Am Coll Cardiol       Date:  2006-01-26       Impact factor: 24.094

8.  Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants.

Authors:  Suraj Kapa; David J Tester; Benjamin A Salisbury; Carole Harris-Kerr; Manish S Pungliya; Marielle Alders; Arthur A M Wilde; Michael J Ackerman
Journal:  Circulation       Date:  2009-10-19       Impact factor: 29.690

Review 9.  Arrhythmogenic right ventricular cardiomyopathy/dysplasia.

Authors:  Gaetano Thiene; Domenico Corrado; Cristina Basso
Journal:  Orphanet J Rare Dis       Date:  2007-11-14       Impact factor: 4.123
  9 in total
  11 in total

1.  Interpreting Incidentally Identified Variants in Genes Associated With Catecholaminergic Polymorphic Ventricular Tachycardia in a Large Cohort of Clinical Whole-Exome Genetic Test Referrals.

Authors:  Andrew P Landstrom; Andrew L Dailey-Schwartz; Jill A Rosenfeld; Yaping Yang; Margaret J McLean; Christina Y Miyake; Santiago O Valdes; Yuxin Fan; Hugh D Allen; Daniel J Penny; Jeffrey J Kim
Journal:  Circ Arrhythm Electrophysiol       Date:  2017-04

2.  Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation.

Authors:  Edward G Jones; Andrew P Landstrom
Journal:  J Vis Exp       Date:  2019-01-16       Impact factor: 1.355

Review 3.  The junctophilin family of proteins: from bench to bedside.

Authors:  Andrew P Landstrom; David L Beavers; Xander H T Wehrens
Journal:  Trends Mol Med       Date:  2014-03-14       Impact factor: 11.951

4.  Amino acid-level signal-to-noise analysis of incidentally identified variants in genes associated with long QT syndrome during pediatric whole exome sequencing reflects background genetic noise.

Authors:  Andrew P Landstrom; Ernesto Fernandez; Jill A Rosenfeld; Yaping Yang; Andrew L Dailey-Schwartz; Christina Y Miyake; Hugh D Allen; Daniel J Penny; Jeffrey J Kim
Journal:  Heart Rhythm       Date:  2018-03-02       Impact factor: 6.343

Review 5.  Emerging roles of junctophilin-2 in the heart and implications for cardiac diseases.

Authors:  David L Beavers; Andrew P Landstrom; David Y Chiang; Xander H T Wehrens
Journal:  Cardiovasc Res       Date:  2014-06-15       Impact factor: 10.787

6.  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

7.  An in vivo cardiac assay to determine the functional consequences of putative long QT syndrome mutations.

Authors:  Chuanchau J Jou; Spencer M Barnett; Jian-Tao Bian; H Cindy Weng; Xiaoming Sheng; Martin Tristani-Firouzi
Journal:  Circ Res       Date:  2013-01-09       Impact factor: 17.367

Review 8.  Genetic advances in sarcomeric cardiomyopathies: state of the art.

Authors:  Carolyn Y Ho; Philippe Charron; Pascale Richard; Francesca Girolami; Karin Y Van Spaendonck-Zwarts; Yigal Pinto
Journal:  Cardiovasc Res       Date:  2015-01-29       Impact factor: 10.787

Review 9.  Drosophila in the Heart of Understanding Cardiac Diseases: Modeling Channelopathies and Cardiomyopathies in the Fruitfly.

Authors:  Ouarda Taghli-Lamallem; Emilie Plantié; Krzysztof Jagla
Journal:  J Cardiovasc Dev Dis       Date:  2016-02-18

10.  Whole-exome sequencing identifies Y1495X of SCN5A to be associated with familial conduction disease and sudden death.

Authors:  Zhi-Ping Tan; Li Xie; Yao Deng; Jin-Lan Chen; Wei-Zhi Zhang; Jian Wang; Jin-Fu Yang; Yi-Feng Yang
Journal:  Sci Rep       Date:  2014-07-10       Impact factor: 4.379
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