European Heart Rhythm Association (EHRA)/Heart Rhythm Society (HRS)/Asia Pacific Heart Rhythm Society (APHRS)/Latin American Heart Rhythm Society (LAHRS) Expert Consensus Statement on the state of genetic testing for cardiac diseases

Autor: Wilde, AAM, Semsarian, C, Márquez, MF, Sepehri Shamloo, A, Ackerman, MJ, Ashley, EA, Sternick, EB, Barajas-Martinez, H, Behr, ER, Bezzina, CR, Breckpot, J, Charron, P, Chockalingam, P, Crotti, L, Gollob, MH, Lubitz, S, Makita, N, Ohno, S, Ortiz-Genga, M, Sacilotto, L, Schulze-Bahr, E, Shimizu, W, Sotoodehnia, N, Tadros, R, Ware, JS, Winlaw, DS, Kaufman, ES, Document Reviewers, Aiba, T, Bollmann, A, Choi, J-I, Dalal, A, Darrieux, F, Giudicessi, J, Guerchicoff, M, Hong, K, Krahn, AD, MacIntyre, C, Mackall, JA, Mont, L, Napolitano, C, Ochoa, JP, Peichl, P, Pereira, AC, Schwartz, PJ, Skinner, J, Stellbrink, C, Tfelt-Hansen, J, Deneke, T

Publikováno v: EP Europace, 24(8), 1307-1367. Oxford University Press
Wilde, A A M, Semsarian, C, Márquez, M F, Shamloo, A S, Ackerman, M J, Ashley, E A, Sternick, E B, Barajas-Martinez, H, Behr, E R, Bezzina, C R, Breckpot, J, Charron, P, Chockalingam, P, Crotti, L, Gollob, M H, Lubitz, S, Makita, N, Ohno, S, Ortiz-Genga, M, Sacilotto, L, Schulze-Bahr, E, Shimizu, W, Sotoodehnia, N, Tadros, R, Ware, J S, Winlaw, D S, Kaufman, E S, Aiba, T, Bollmann, A, Choi, J I, Dalal, A, Darrieux, F, Giudicessi, J, Guerchicoff, M, Hong, K, Krahn, A D, MacIntyre, C, Mackall, J A, Mont, L, Napolitano, C, Ochoa, J P, Peichl, P, Pereira, A C, Schwartz, P J, Skinner, J, Stellbrink, C, Tfelt-Hansen, J & Deneke, T 2022, ' European Heart Rhythm Association (EHRA)/Heart Rhythm Society (HRS)/Asia Pacific Heart Rhythm Society (APHRS)/Latin American Heart Rhythm Society (LAHRS) Expert Consensus Statement on the state of genetic testing for cardiac diseases ', Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology, vol. 24, no. 8, pp. 1307-1367 . https://doi.org/10.1093/europace/euac030
Document Reviewers 2022, ' European Heart Rhythm Association (EHRA)/Heart Rhythm Society (HRS)/Asia Pacific Heart Rhythm Society (APHRS)/Latin American Heart Rhythm Society (LAHRS) Expert Consensus Statement on the State of Genetic Testing for Cardiac Diseases ', Heart Rhythm, vol. 19, no. 7, pp. e1-e60 . https://doi.org/10.1016/j.hrthm.2022.03.1225
Heart rhythm, 19(7), e1-e60. Elsevier
Wilde, A A M, Semsarian, C, Márquez, M F, Sepehri Shamloo, A, Ackerman, M J, Ashley, E A, Sternick Eduardo, B, Barajas-Martinez, H, Behr, E R, Bezzina, C R, Breckpot, J, Charron, P, Chockalingam, P, Crotti, L, Gollob, M H, Lubitz, S, Makita, N, Ohno, S, Ortiz-Genga, M, Sacilotto, L, Schulze-Bahr, E, Shimizu, W, Sotoodehnia, N, Tadros, R, Ware, J S, Winlaw, D S, Kaufman, E S, Aiba, T, Bollmann, A, Choi, J-I, Dalal, A, Darrieux, F, Giudicessi, J, Guerchicoff, M, Hong, K, Krahn, A D, Mac Intyre, C, Mackall, J A, Mont, L, Napolitano, C, Ochoa Juan, P, Peichl, P, Pereira, A C, Schwartz, P J, Skinner, J, Stellbrink, C, Tfelt-Hansen, J & Deneke, T 2022, ' European Heart Rhythm Association (EHRA)/Heart Rhythm Society (HRS)/Asia Pacific Heart Rhythm Society (APHRS)/Latin American Heart Rhythm Society (LAHRS) Expert Consensus Statement on the state of genetic testing for cardiac diseases ', Journal of Arrhythmia, vol. 38, no. 4, pp. 491-553 . https://doi.org/10.1002/joa3.12717
Journal of arrhythmia, 38(4), 491-553. Elsevier BV
e60
e1

Genetic testing has advanced significantly since the publication of the 2011 HRS/EHRA Expert Consensus Statement on the State of Genetic Testing for the Channelopathies and Cardiomyopathies.1 In addition to single-gene testing, there is now the abili

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ef7ef6d36346d31038818561ecda8c15

Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls

Autor: Walsh R, Lahrouchi N, Tadros R, Kyndt F, Glinge C, Postema PG, Amin AS, Nannenberg EA, Ware JS, Whiffin N, Mazzarotto F, Škoric-Milosavljevic D, Krijger C, Arbelo E, Babuty D, Barajas-Martinez H, Beckmann BM, Bézieau S, Bos JM, Breckpot J, Campuzano O, Castelletti S, Celen C, Clauss S, Corveleyn A, Crotti L, Dagradi F, de Asmundis C, Denjoy I, Dittmann S, Ellinor PT, Ortuño CG, Giustetto C, Gourraud JB, Hazeki D, Horie M, Ishikawa T, Itoh H, Kaneko Y, Kanters JK, Kimoto H, Kotta MC, Krapels IPC, Kurabayashi M, Lazarte J, Leenhardt A, Loeys BL, Lundin C, Makiyama T, Mansourati J, Martins RP, Mazzanti A, Mörner S, Napolitano C, Ohkubo K, Papadakis M, Rudic B, Molina MS, Sacher F, Sahin H, Sarquella-Brugada G, Sebastiano R, Sharma S, Sheppard MN, Shimamoto K, Shoemaker MB, Stallmeyer B, Steinfurt J, Tanaka Y, Tester DJ, Usuda K, van der Zwaag PA, Van Dooren S, Van Laer L, Winbo A, Winkel BG, Yamagata K, Zumhagen S, Volders PGA, Lubitz SA, Antzelevitch C, Platonov PG, Odening KE, Roden DM, Roberts JD, Skinner JR, Tfelt-Hansen J, van den Berg MP, Olesen MS, Lambiase PD, Borggrefe M, Hayashi K, Rydberg A, Nakajima T, Yoshinaga M, Saenen JB, Kääb S, Brugada P, Robyns T, Giachino DF, Ackerman MJ, Brugada R, Brugada-Terradellas J, Gimeno JR, Hasdemir C, Guicheney P, Priori SG, Schulze-Bahr E, Makita N, Schwartz PJ, Shimizu W, Aiba T, Schott JJ, Redon R, Ohno S, Probst V, Behr ER, Barc J, Bezzina CR, Nantes Referral Center for inherited cardiac arrhythmia

Publikováno v: GENETICS IN MEDICINE
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu

PURPOSE: Stringent variant interpretation guidelines can lead to high rates of variants of uncertain significance (VUS) for genetically heterogeneous disease like long QT syndrome (LQTS) and Brugada syndrome (BrS). Quantitative and disease-specific c

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::e87c9928a8521edcd91c04ed927a7b68
https://openaccess.sgul.ac.uk/id/eprint/112371/3/s41436-020-00946-5.pdf

Prevalence and Phenotypic Correlations of Calmodulinopathy-Causative CALM1-3 Variants Detected in a Multicenter Molecular Autopsy Cohort of Sudden Unexplained Death Victims

Autor: Clemens, DJ, Gray, B, Bagnall, RD, Tester, DJ, Giudicessi, JR, Maleszewski, JJ, Crotti, L, Schwartz, PJ, Matthews, E, Semsarian, C, Behr, ER, Ackerman, MJ

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=core_ac_uk__::ec9cdcf25bcc7156fe7170716294744b
https://openaccess.sgul.ac.uk/id/eprint/112659/1/CIRCGEN.120.003032.pdf

Evaluation After Sudden Death in the Young

Autor: Gray, B, Ackerman, MJ, Semsarian, C, Behr, ER

Sudden cardiac death is defined as a death occurring usually within an hour of onset of symptoms, arising from an underlying cardiac disease. Sudden cardiac death is a complication of a number of cardiovascular diseases and is often unexpected. In in

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=core_ac_uk__::f895d0b7380d065bf1509383aaed451b
https://openaccess.sgul.ac.uk/id/eprint/111144/1/341912_3_merged_1562617630.pdf

Reappraisal of reported genes for sudden arrhythmic death: an evidence-based evaluation of gene validity for Brugada syndrome

Autor: Hosseini, SM, Kim, R, Udupa, S, Costain, G, Jobling, R, Liston, E, Jamal, SM, Szybowska, M, Morel, CF, Bowdin, S, Garcia, J, Care, M, Sturm, AC, Novelli, V, Ackerman, MJ, Ware, JS, Hershberger, RE, Wilde, AAM, Gollob, MH, NIH-Clinical Genome Resource Consortium

Background -Implicit in the genetic evaluation of patients with suspected genetic diseases is the assumption that the genes evaluated are causative for the disease based on robust scientific and statistical evidence. However, in the past 20 years con

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______1032::162ed23b0569d47e1103dad20c999d85
http://hdl.handle.net/10044/1/61287