Genetic Analysis of Heart Channelopathies in Brazilian Patients and Their Relatives

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ClinicalTrials.gov Identifier: NCT04832126

Recruitment Status : Recruiting

First Posted : April 5, 2021

Last Update Posted : April 6, 2021

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Sponsor:

Information provided by (Responsible Party):

Nilson Araújo de Oliveira Junior, D'Or Institute for Research and Education

No Study Results Posted on ClinicalTrials.gov for this Study

About Study Results Reporting on ClinicalTrials.gov

Recruitment Status :	Recruiting
Estimated Primary Completion Date :	August 1, 2021
Estimated Study Completion Date :	July 31, 2024

Publications of Results:

Abriel H, Zaklyazminskaya EV. Cardiac channelopathies: genetic and molecular mechanisms. Gene. 2013 Mar 15;517(1):1-11. doi: 10.1016/j.gene.2012.12.061. Epub 2012 Dec 22.

Ackerman MJ, Priori SG, Willems S, Berul C, Brugada R, Calkins H, Camm AJ, Ellinor PT, Gollob M, Hamilton R, Hershberger RE, Judge DP, Le Marec H, McKenna WJ, Schulze-Bahr E, Semsarian C, Towbin JA, Watkins H, Wilde A, Wolpert C, Zipes DP; Heart Rhythm Society (HRS); European Heart Rhythm Association (EHRA). HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA). Europace. 2011 Aug;13(8):1077-109. doi: 10.1093/europace/eur245. No abstract available. Erratum In: Europace. 2012 Feb;14(2):277. Probst, Vincent [added]; Schwartz, Peter J [added]; Kaab, Stefan [added]; Kirchhof, Paulus [added].

Antzelevitch C, Brugada P, Borggrefe M, Brugada J, Brugada R, Corrado D, Gussak I, LeMarec H, Nademanee K, Perez Riera AR, Shimizu W, Schulze-Bahr E, Tan H, Wilde A. Brugada syndrome: report of the second consensus conference. Heart Rhythm. 2005 Apr;2(4):429-40. doi: 10.1016/j.hrthm.2005.01.005. Erratum In: Heart Rhythm. 2005 Aug;2(8):905.

Bezzerides VJ, Zhang D, Pu WT. Modeling Inherited Arrhythmia Disorders Using Induced Pluripotent Stem Cell-Derived Cardiomyocytes. Circ J. 2016 Dec 22;81(1):12-21. doi: 10.1253/circj.CJ-16-1113. Epub 2016 Dec 3.

Brugada P, Brugada R, Brugada J. Should patients with an asymptomatic Brugada electrocardiogram undergo pharmacological and electrophysiological testing? Circulation. 2005 Jul 12;112(2):279-92; discussion 279-92. doi: 10.1161/CIRCULATIONAHA.104.485326. No abstract available.

Chugh SS, Huertas-Vazquez A. Inherited arrhythmia syndromes: exome sequencing opens a new door to diagnosis. J Am Coll Cardiol. 2014 Jan 28;63(3):267-8. doi: 10.1016/j.jacc.2013.07.089. Epub 2013 Sep 25. No abstract available.

Coumel P, Fidelle J, Lucet V, et al. Catecholamine-induced severe ventricular arrhythmias with Adams-Stokes syndrome in children: report of four cases. Br Heart J 1978;40(Suppl):28-37

Fernandez-Falgueras A, Sarquella-Brugada G, Brugada J, Brugada R, Campuzano O. Cardiac Channelopathies and Sudden Death: Recent Clinical and Genetic Advances. Biology (Basel). 2017 Jan 29;6(1):7. doi: 10.3390/biology6010007.

Giudicessi JR, Ackerman MJ. Determinants of incomplete penetrance and variable expressivity in heritable cardiac arrhythmia syndromes. Transl Res. 2013 Jan;161(1):1-14. doi: 10.1016/j.trsl.2012.08.005. Epub 2012 Sep 17.

Giudicessi JR, Ackerman MJ. Genetic testing in heritable cardiac arrhythmia syndromes: differentiating pathogenic mutations from background genetic noise. Curr Opin Cardiol. 2013 Jan;28(1):63-71. doi: 10.1097/HCO.0b013e32835b0a41.

Gollob MH, Blier L, Brugada R, Champagne J, Chauhan V, Connors S, Gardner M, Green MS, Gow R, Hamilton R, Harris L, Healey JS, Hodgkinson K, Honeywell C, Kantoch M, Kirsh J, Krahn A, Mullen M, Parkash R, Redfearn D, Rutberg J, Sanatani S, Woo A. 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. Can J Cardiol. 2011 Mar-Apr;27(2):232-45. doi: 10.1016/j.cjca.2010.12.078.

Hofman N, Tan HL, Alders M, van Langen IM, Wilde AA. Active cascade screening in primary inherited arrhythmia syndromes: does it lead to prophylactic treatment? J Am Coll Cardiol. 2010 Jun 8;55(23):2570-6. doi: 10.1016/j.jacc.2009.12.063.

Ingles J, Zodgekar PR, Yeates L, Macciocca I, Semsarian C, Fatkin D; CSANZ Cardiac Genetic Diseases Council Writing Group. Guidelines for genetic testing of inherited cardiac disorders. Heart Lung Circ. 2011 Nov;20(11):681-7. doi: 10.1016/j.hlc.2011.07.013.

Li MM, Datto M, Duncavage EJ, Kulkarni S, Lindeman NI, Roy S, Tsimberidou AM, Vnencak-Jones CL, Wolff DJ, Younes A, Nikiforova MN. Standards and Guidelines for the Interpretation and Reporting of Sequence Variants in Cancer: A Joint Consensus Recommendation of the Association for Molecular Pathology, American Society of Clinical Oncology, and College of American Pathologists. J Mol Diagn. 2017 Jan;19(1):4-23. doi: 10.1016/j.jmoldx.2016.10.002.

Medeiros-Domingo A, Bhuiyan ZA, Tester DJ, Hofman N, Bikker H, van Tintelen JP, Mannens MM, Wilde AA, Ackerman MJ. The RYR2-encoded ryanodine receptor/calcium release channel in patients diagnosed previously with either catecholaminergic polymorphic ventricular tachycardia or genotype negative, exercise-induced long QT syndrome: a comprehensive open reading frame mutational analysis. J Am Coll Cardiol. 2009 Nov 24;54(22):2065-74. doi: 10.1016/j.jacc.2009.08.022.

Mizusawa Y, Wilde AA. Brugada syndrome. Circ Arrhythm Electrophysiol. 2012 Jun 1;5(3):606-16. doi: 10.1161/CIRCEP.111.964577. No abstract available.

Nademanee K, Veerakul G, Chandanamattha P, Chaothawee L, Ariyachaipanich A, Jirasirirojanakorn K, Likittanasombat K, Bhuripanyo K, Ngarmukos T. Prevention of ventricular fibrillation episodes in Brugada syndrome by catheter ablation over the anterior right ventricular outflow tract epicardium. Circulation. 2011 Mar 29;123(12):1270-9. doi: 10.1161/CIRCULATIONAHA.110.972612. Epub 2011 Mar 14.

Priori SG, Wilde AA, Horie M, Cho Y, Behr ER, Berul C, Blom N, Brugada J, Chiang CE, Huikuri H, Kannankeril P, Krahn A, Leenhardt A, Moss A, Schwartz PJ, Shimizu W, Tomaselli G, Tracy C; Document Reviewers; Ackerman M, Belhassen B, Estes NA 3rd, Fatkin D, Kalman J, Kaufman E, Kirchhof P, Schulze-Bahr E, Wolpert C, Vohra J, Refaat M, Etheridge SP, Campbell RM, Martin ET, Quek SC; Heart Rhythm Society; European Heart Rhythm Association; Asia Pacific Heart Rhythm Society. Executive summary: HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited primary arrhythmia syndromes. Europace. 2013 Oct;15(10):1389-406. doi: 10.1093/europace/eut272. Epub 2013 Aug 30. No abstract available.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

Schwartz PJ, Priori SG, Spazzolini C, Moss AJ, Vincent GM, Napolitano C, Denjoy I, Guicheney P, Breithardt G, Keating MT, Towbin JA, Beggs AH, Brink P, Wilde AA, Toivonen L, Zareba W, Robinson JL, Timothy KW, Corfield V, Wattanasirichaigoon D, Corbett C, Haverkamp W, Schulze-Bahr E, Lehmann MH, Schwartz K, Coumel P, Bloise R. Genotype-phenotype correlation in the long-QT syndrome: gene-specific triggers for life-threatening arrhythmias. Circulation. 2001 Jan 2;103(1):89-95. doi: 10.1161/01.cir.103.1.89.

Splawski I, Timothy KW, Sharpe LM, Decher N, Kumar P, Bloise R, Napolitano C, Schwartz PJ, Joseph RM, Condouris K, Tager-Flusberg H, Priori SG, Sanguinetti MC, Keating MT. Ca(V)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism. Cell. 2004 Oct 1;119(1):19-31. doi: 10.1016/j.cell.2004.09.011.

Wang Q, Shen J, Splawski I, Atkinson D, Li Z, Robinson JL, Moss AJ, Towbin JA, Keating MT. SCN5A mutations associated with an inherited cardiac arrhythmia, long QT syndrome. Cell. 1995 Mar 10;80(5):805-11. doi: 10.1016/0092-8674(95)90359-3.

Zellerhoff S, Pistulli R, Monnig G, Hinterseer M, Beckmann BM, Kobe J, Steinbeck G, Kaab S, Haverkamp W, Fabritz L, Gradaus R, Breithardt G, Schulze-Bahr E, Bocker D, Kirchhof P. Atrial Arrhythmias in long-QT syndrome under daily life conditions: a nested case control study. J Cardiovasc Electrophysiol. 2009 Apr;20(4):401-7. doi: 10.1111/j.1540-8167.2008.01339.x. Epub 2008 Oct 27.

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