Literature DB >> 25625719

Next-generation sequencing for the diagnosis of cardiac arrhythmia syndromes.

Steven A Lubitz1, Patrick T Ellinor2.   

Abstract

Inherited arrhythmia syndromes are collectively associated with substantial morbidity, yet our understanding of the genetic architecture of these conditions remains limited. Recent technological advances in DNA sequencing have led to the commercialization of genetic testing now widely available in clinical practice. In particular, next-generation sequencing allows the large-scale and rapid assessment of entire genomes. Although next-generation sequencing represents a major technological advance, it has introduced numerous challenges with respect to the interpretation of genetic variation and has opened a veritable floodgate of biological data of unknown clinical significance to practitioners. In this review, we discuss current genetic testing indications for inherited arrhythmia syndromes, broadly outline characteristics of next-generation sequencing techniques, and highlight challenges associated with such testing. We further summarize future directions that will be necessary to address to enable the widespread adoption of next-generation sequencing in the routine management of patients with inherited arrhythmia syndromes.
Copyright © 2015 Heart Rhythm Society. Published by Elsevier Inc. All rights reserved.

Entities:  

Keywords:  Arrhythmia; Genetics; Mutation; Sequencing

Mesh:

Year:  2015        PMID: 25625719      PMCID: PMC4410060          DOI: 10.1016/j.hrthm.2015.01.011

Source DB:  PubMed          Journal:  Heart Rhythm        ISSN: 1547-5271            Impact factor:   6.343


  46 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.  2011 ACCF/AHA guideline for the diagnosis and treatment of hypertrophic cardiomyopathy: executive summary: a report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines.

Authors:  Bernard J Gersh; Barry J Maron; Robert O Bonow; Joseph A Dearani; Michael A Fifer; Mark S Link; Srihari S Naidu; Rick A Nishimura; Steve R Ommen; Harry Rakowski; Christine E Seidman; Jeffrey A Towbin; James E Udelson; Clyde W Yancy
Journal:  Circulation       Date:  2011-11-08       Impact factor: 29.690

3.  Genetics and cardiovascular disease: a policy statement from the American Heart Association.

Authors:  Euan A Ashley; Ray E Hershberger; Colleen Caleshu; Patrick T Ellinor; Joe G N Garcia; David M Herrington; Carolyn Y Ho; Julie A Johnson; Steven J Kittner; Calum A Macrae; Gia Mudd-Martin; Daniel J Rader; Dan M Roden; Derek Scholes; Frank W Sellke; Jeffrey A Towbin; Jennifer Van Eyk; Bradford B Worrall
Journal:  Circulation       Date:  2012-05-29       Impact factor: 29.690

Review 4.  Needles in stacks of needles: finding disease-causal variants in a wealth of genomic data.

Authors:  Gregory M Cooper; Jay Shendure
Journal:  Nat Rev Genet       Date:  2011-08-18       Impact factor: 53.242

5.  Mortality of inherited arrhythmia syndromes: insight into their natural history.

Authors:  Eline A Nannenberg; Eric J G Sijbrands; Lea M Dijksman; Marielle Alders; J Peter van Tintelen; Martijn Birnie; Irene M van Langen; Arthur A M Wilde
Journal:  Circ Cardiovasc Genet       Date:  2012-02-28

Review 6.  Exome sequencing as a tool for Mendelian disease gene discovery.

Authors:  Michael J Bamshad; Sarah B Ng; Abigail W Bigham; Holly K Tabor; Mary J Emond; Deborah A Nickerson; Jay Shendure
Journal:  Nat Rev Genet       Date:  2011-09-27       Impact factor: 53.242

7.  Multifocal ectopic Purkinje-related premature contractions: a new SCN5A-related cardiac channelopathy.

Authors:  Gabriel Laurent; Samuel Saal; Mohamed Yassine Amarouch; Delphine M Béziau; Roos F J Marsman; Laurence Faivre; Julien Barc; Christian Dina; Geraldine Bertaux; Olivier Barthez; Christel Thauvin-Robinet; Philippe Charron; Véronique Fressart; Alice Maltret; Elisabeth Villain; Estelle Baron; Jean Mérot; Rodolphe Turpault; Yves Coudière; Flavien Charpentier; Jean-Jacques Schott; Gildas Loussouarn; Arthur A M Wilde; Jean-Eric Wolf; Isabelle Baró; Florence Kyndt; Vincent Probst
Journal:  J Am Coll Cardiol       Date:  2012-07-10       Impact factor: 24.094

Review 8.  Genetics of hypertrophic cardiomyopathy after 20 years: clinical perspectives.

Authors:  Barry J Maron; Martin S Maron; Christopher Semsarian
Journal:  J Am Coll Cardiol       Date:  2012-07-11       Impact factor: 24.094

9.  The sequence of the human genome.

Authors:  J C Venter; M D Adams; E W Myers; P W Li; R J Mural; G G Sutton; H O Smith; M Yandell; C A Evans; R A Holt; J D Gocayne; P Amanatides; R M Ballew; D H Huson; J R Wortman; Q Zhang; C D Kodira; X H Zheng; L Chen; M Skupski; G Subramanian; P D Thomas; J Zhang; G L Gabor Miklos; C Nelson; S Broder; A G Clark; J Nadeau; V A McKusick; N Zinder; A J Levine; R J Roberts; M Simon; C Slayman; M Hunkapiller; R Bolanos; A Delcher; I Dew; D Fasulo; M Flanigan; L Florea; A Halpern; S Hannenhalli; S Kravitz; S Levy; C Mobarry; K Reinert; K Remington; J Abu-Threideh; E Beasley; K Biddick; V Bonazzi; R Brandon; M Cargill; I Chandramouliswaran; R Charlab; K Chaturvedi; Z Deng; V Di Francesco; P Dunn; K Eilbeck; C Evangelista; A E Gabrielian; W Gan; W Ge; F Gong; Z Gu; P Guan; T J Heiman; M E Higgins; R R Ji; Z Ke; K A Ketchum; Z Lai; Y Lei; Z Li; J Li; Y Liang; X Lin; F Lu; G V Merkulov; N Milshina; H M Moore; A K Naik; V A Narayan; B Neelam; D Nusskern; D B Rusch; S Salzberg; W Shao; B Shue; J Sun; Z Wang; A Wang; X Wang; J Wang; M Wei; R Wides; C Xiao; C Yan; A Yao; J Ye; M Zhan; W Zhang; H Zhang; Q Zhao; L Zheng; F Zhong; W Zhong; S Zhu; S Zhao; D Gilbert; S Baumhueter; G Spier; C Carter; A Cravchik; T Woodage; F Ali; H An; A Awe; D Baldwin; H Baden; M Barnstead; I Barrow; K Beeson; D Busam; A Carver; A Center; M L Cheng; L Curry; S Danaher; L Davenport; R Desilets; S Dietz; K Dodson; L Doup; S Ferriera; N Garg; A Gluecksmann; B Hart; J Haynes; C Haynes; C Heiner; S Hladun; D Hostin; J Houck; T Howland; C Ibegwam; J Johnson; F Kalush; L Kline; S Koduru; A Love; F Mann; D May; S McCawley; T McIntosh; I McMullen; M Moy; L Moy; B Murphy; K Nelson; C Pfannkoch; E Pratts; V Puri; H Qureshi; M Reardon; R Rodriguez; Y H Rogers; D Romblad; B Ruhfel; R Scott; C Sitter; M Smallwood; E Stewart; R Strong; E Suh; R Thomas; N N Tint; S Tse; C Vech; G Wang; J Wetter; S Williams; M Williams; S Windsor; E Winn-Deen; K Wolfe; J Zaveri; K Zaveri; J F Abril; R Guigó; M J Campbell; K V Sjolander; B Karlak; A Kejariwal; H Mi; B Lazareva; T Hatton; A Narechania; K Diemer; A Muruganujan; N Guo; S Sato; V Bafna; S Istrail; R Lippert; R Schwartz; B Walenz; S Yooseph; D Allen; A Basu; J Baxendale; L Blick; M Caminha; J Carnes-Stine; P Caulk; Y H Chiang; M Coyne; C Dahlke; A Deslattes Mays; M Dombroski; M Donnelly; D Ely; S Esparham; C Fosler; H Gire; S Glanowski; K Glasser; A Glodek; M Gorokhov; K Graham; B Gropman; M Harris; J Heil; S Henderson; J Hoover; D Jennings; C Jordan; J Jordan; J Kasha; L Kagan; C Kraft; A Levitsky; M Lewis; X Liu; J Lopez; D Ma; W Majoros; J McDaniel; S Murphy; M Newman; T Nguyen; N Nguyen; M Nodell; S Pan; J Peck; M Peterson; W Rowe; R Sanders; J Scott; M Simpson; T Smith; A Sprague; T Stockwell; R Turner; E Venter; M Wang; M Wen; D Wu; M Wu; A Xia; A Zandieh; X Zhu
Journal:  Science       Date:  2001-02-16       Impact factor: 47.728

10.  High prevalence of genetic variants previously associated with LQT syndrome in new exome data.

Authors:  Lena Refsgaard; Anders G Holst; Golnaz Sadjadieh; Stig Haunsø; Jonas B Nielsen; Morten S Olesen
Journal:  Eur J Hum Genet       Date:  2012-02-29       Impact factor: 4.246

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  12 in total

Review 1.  Molecular genetic diagnostics for ventricular arrhythmias and sudden cardiac death syndromes.

Authors:  B Stallmeyer; S Dittmann; G Seebohm; J Müller; E Schulze-Bahr
Journal:  Herz       Date:  2017-08       Impact factor: 1.443

Review 2.  Genetic Testing in Inherited Heart Diseases: Practical Considerations for Clinicians.

Authors:  Melanie Care; Vijay Chauhan; Danna Spears
Journal:  Curr Cardiol Rep       Date:  2017-08-16       Impact factor: 2.931

Review 3.  How Functional Genomics Can Keep Pace With VUS Identification.

Authors:  Corey L Anderson; Saba Munawar; Louise Reilly; Timothy J Kamp; Craig T January; Brian P Delisle; Lee L Eckhardt
Journal:  Front Cardiovasc Med       Date:  2022-07-04

Review 4.  Next-Generation Sequencing in Post-mortem Genetic Testing of Young Sudden Cardiac Death Cases.

Authors:  Najim Lahrouchi; Elijah R Behr; Connie R Bezzina
Journal:  Front Cardiovasc Med       Date:  2016-05-30

5.  Real-Time Monitoring and Analysis of Zebrafish Electrocardiogram with Anomaly Detection.

Authors:  Michael Lenning; Joseph Fortunato; Tai Le; Isaac Clark; Ang Sherpa; Soyeon Yi; Peter Hofsteen; Geethapriya Thamilarasu; Jingchun Yang; Xiaolei Xu; Huy-Dung Han; Tzung K Hsiai; Hung Cao
Journal:  Sensors (Basel)       Date:  2017-12-28       Impact factor: 3.576

6.  Contemporary genetic testing in inherited cardiac disease: tools, ethical issues, and clinical applications.

Authors:  Francesca Girolami; Giulia Frisso; Matteo Benelli; Lia Crotti; Maria Iascone; Ruggiero Mango; Cristina Mazzaccara; Kalliope Pilichou; Eloisa Arbustini; Benedetta Tomberli; Giuseppe Limongelli; Cristina Basso; Iacopo Olivotto
Journal:  J Cardiovasc Med (Hagerstown)       Date:  2018-01       Impact factor: 2.160

7.  An Autopsy Case of Sudden Unexpected Death of a Young Adult in a Hot Bath: Molecular Analysis Using Next-Generation DNA Sequencing.

Authors:  Yukiko Hata; Koshi Kinoshita; Naoki Nishida
Journal:  Clin Med Insights Case Rep       Date:  2017-04-06

8.  Challenges in Molecular Diagnostics of Channelopathies in the Next-Generation Sequencing Era: Less Is More?

Authors:  Valeria Novelli; Patrick Gambelli; Mirella Memmi; Carlo Napolitano
Journal:  Front Cardiovasc Med       Date:  2016-09-12

Review 9.  Unsolved challenges of clinical whole-exome sequencing: a systematic literature review of end-users' views.

Authors:  Gabrielle Bertier; Martin Hétu; Yann Joly
Journal:  BMC Med Genomics       Date:  2016-08-11       Impact factor: 3.063

10.  Deduction of novel genes potentially involved in hypoxic AC16 human cardiomyocytes using next-generation sequencing and bioinformatics approaches.

Authors:  Wen-Hsien Lee; Ming-Ju Tsai; Wei-An Chang; Ling-Yu Wu; Han-Ying Wang; Kuo-Feng Chang; Ho-Ming Su; Po-Lin Kuo
Journal:  Int J Mol Med       Date:  2018-08-31       Impact factor: 4.101

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