Whole-exome sequencing to identify causative variants in juvenile sudden cardiac death

Zeppenfeld K, Tfelt-Hansen J, de Riva M, Winkel BG, Behr ER, Blom NA, et al. 2022 ESC Guidelines for the management of patients with ventricular arrhythmias and the prevention of sudden cardiac death: developed by the task force for the management of patients with ventricular arrhythmias and the prevention of sudden cardiac death of the European Society of Cardiology (ESC) Endorsed by the Association for European Paediatric and Congenital Cardiology (AEPC). Eur Heart J. 2022;43(40):3997–4126. https://doi.org/10.1093/eurheartj/ehac262.

Article  PubMed  Google Scholar 

Wong CX, Brown A, Lau DH, Chugh SS, Albert CM, Kalman JM, et al. Epidemiology of sudden cardiac death: global and regional perspectives. Heart Lung Circ. 2019;28(1):6–14. https://doi.org/10.1016/j.hlc.2018.08.026.

Article  PubMed  Google Scholar 

Wilde AAM, Semsarian C, Márquez MF, Shamloo AS, Ackerman MJ, Ashley EA, et al. 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. EP Europace. 2022;24(8):1307–67. https://doi.org/10.1093/europace/euac030.

Article  Google Scholar 

Scrocco C, Bezzina CR, Ackerman MJ, Behr ER. Genetics and genomics of arrhythmic risk: current and future strategies to prevent sudden cardiac death. Nat Rev Cardiol. 2021;18(11):774–84. https://doi.org/10.1038/s41569-021-00555-y.

Article  PubMed  Google Scholar 

Arbelo E, Protonotarios A, Gimeno JR, Arbustini E, Barriales-Villa R, Basso C, et al. 2023 ESC Guidelines for the management of cardiomyopathies. Eur Heart J. 2023;44(37):3503–626. https://doi.org/10.1093/eurheartj/ehad194.

Article  CAS  PubMed  Google Scholar 

Wilde AAM, Semsarian C, Márquez MF, Shamloo AS, 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 JI, 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; Developed in partnership with and endorsed by the European Heart Rhythm Association (EHRA), a branch of the European Society of Cardiology (ESC), the Heart Rhythm Society (HRS), the Asia Pacific Heart Rhythm Society (APHRS), and the Latin American Heart Rhythm Society (LAHRS). 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. 2022 Sep 1;24(8):1307–1367. https://doi.org/10.1093/europace/euac030. Erratum in: Europace. 2022 Sep 1;24(8):1367. https://doi.org/10.1093/europace/euac106

Bagnall RD, Singer ES, Tfelt-Hansen J. Sudden cardiac death in the young. Heart Lung Circ. 2020;29(4):498–504. https://doi.org/10.1016/j.hlc.2019.11.007.

Article  PubMed  Google Scholar 

Winkel BG, Holst AG, Theilade J, Kristensen IB, Thomsen JL, Ottesen GL, et al. Nationwide study of sudden cardiac death in persons aged 1–35 years. Eur Heart J. 2010;32(8):983–90. https://doi.org/10.1093/eurheartj/ehq428.

Article  PubMed  Google Scholar 

Basso C, Burke M, Fornes P, Gallagher PJ, de Gouveia RH, Sheppard M, et al. Guidelines for autopsy investigation of sudden cardiac death. Virchows Arch. 2007;452(1):11–8. https://doi.org/10.1007/s00428-007-0505-5.

Article  PubMed  Google Scholar 

Basso C, Aguilera B, Banner J, Cohle S, d’Amati G, de Gouveia RH, et al. Guidelines for autopsy investigation of sudden cardiac death: 2017 update from the Association for European Cardiovascular Pathology. Virchows Arch. 2017;471(6):691–705. https://doi.org/10.1007/s00428-017-2221-0

Article  PubMed  PubMed Central  Google Scholar 

Yazdanfard PD, Christensen AH, Tfelt-Hansen J, Bundgaard H, Winkel BG. Non-diagnostic autopsy findings in sudden unexplained death victims. BMC Cardiovasc Disord. 2020;20(1):58. https://doi.org/10.1186/s12872-020-01361-z

Article  PubMed  PubMed Central  Google Scholar 

Eckart RE, Shry EA, Burke AP, McNear JA, Appel DA, Castillo-Rojas LM, et al. Sudden death in young adults. J Am Coll Cardiol. 2011;58(12):1254–61. https://doi.org/10.1016/j.jacc.2011.01.049.

Article  PubMed  Google Scholar 

Isbister JC, Semsarian C. The role of the molecular autopsy in sudden cardiac death in young individuals. Nat Rev Cardiol. 2024 Apr;21(4):215-216. https://doi.org/10.1038/s41569-024-00989-0.

Isbister JC, Nowak N, Yeates L, Singer ES, Sy RW, Ingles J, et al. Concealed cardiomyopathy in autopsy-inconclusive cases of sudden cardiac death and implications for families. J Am Coll Cardiol. 2022;80(22):2057–68. https://doi.org/10.1016/j.jacc.2022.09.029.

Article  PubMed  Google Scholar 

Bagnall RD, Weintraub RG, Ingles J, Duflou J, Yeates L, Lam L, et al. A prospective study of sudden cardiac death among children and young adults. N Engl J Med. 2016;374(25):2441–52. https://doi.org/10.1056/NEJMoa1510687.

Article  PubMed  Google Scholar 

Orland KM, Anderson KB. Molecular autopsy for sudden cardiac death: current state and considerations. Curr Genet Med Rep. 2019;7(3):145–52. https://doi.org/10.1007/s40142-019-00170-x.

Article  Google Scholar 

Girolami F, Spinelli V, Maurizi N, Focardi M, Nesi G, Maio V, et al. Genetic characterization of juvenile sudden cardiac arrest and death in Tuscany: the ToRSADE registry. Front Cardiovasc Med. 2022;14:9. https://doi.org/10.3389/fcvm.2022.1080608.

Article  Google Scholar 

Scheiper-Welling S, Tabunscik M, Gross TE, Jenewein T, Beckmann BM, Niess C, et al. Variant interpretation in molecular autopsy: a useful dilemma. Int J Legal Med. 2022;136(2):475–82. https://doi.org/10.1007/s00414-021-02764-z.

Article  PubMed  PubMed Central  Google Scholar 

Campuzano O, Beltramo P, Fernandez A, Iglesias A, García L, Allegue C, et al. Molecular autopsy in a cohort of infants died suddenly at rest. Forensic Sci Int Genet. 2018;37:54–63. https://doi.org/10.1016/j.fsigen.2018.07.023.

Article  CAS  PubMed  Google Scholar 

Lahrouchi N, Behr ER, Bezzina CR. Next-generation sequencing in post-mortem genetic testing of young sudden cardiac death cases. Front Cardiovasc Med. 2016;3(May):1–8. https://doi.org/10.3389/fcvm.2016.00013

Article  CAS  Google Scholar 

Ripoll-Vera T, Pérez Luengo C, Borondo Alcázar JC, García Ruiz AB, Sánchez Del Valle N, Barceló Martín B, et al. Sudden cardiac death in persons aged 50 years or younger: diagnostic yield of a regional molecular autopsy program using massive sequencing. Revista Española de Cardiología (English Edition). 2021;74(5):402–13. https://doi.org/10.1016/j.rec.2020.03.030.

Article  Google Scholar 

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, et al. 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;17(5):405–24. https://doi.org/10.1038/gim.2015.30

Article  PubMed  PubMed Central  Google Scholar 

Gaetano Thiene DCCB. Sudden cardiac death in the young and athletes: text atlas of pathology and clinical correlates. Berlin: Springer; 2016. https://doi.org/10.4081/jbr.2024.12184.

Book  Google Scholar 

Guo Y, Ding X, Shen Y, Lyon GJ, Wang K. SeqMule: automated pipeline for analysis of human exome/genome sequencing data. Sci Rep. 2015;5:14283. https://doi.org/10.1038/srep14283.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Li H. Aligning sequence reads, clone sequences and assembly contigs with BWA-MEM, pp 1–3, 2013. https://doi.org/10.48550/arXiv.1303.3997

McKenna A, Hanna M, Banks E, Sivachenko A, Cibulskis K, Kernytsky A, et al. The genome analysis toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. Genome Res. 2010;20(9):1297. https://doi.org/10.1101/gr.107524.110

Article  CAS  PubMed  PubMed Central  Google Scholar 

Koboldt DC. Best practices for variant calling in clinical sequencing. Genome Med. 2020;12(1):91. https://doi.org/10.1186/s13073-020-00791-w.

Article  PubMed  PubMed Central  Google Scholar 

Desvignes JP, Bartoli M, Delague V, Krahn M, Miltgen M, Béroud C, et al. VarAFT: a variant annotation and filtration system for human next generation sequencing data. Nucleic Acids Res. 2018;46(W1):W545. https://doi.org/10.1093/nar/gky471

Article  CAS  PubMed  PubMed Central  Google Scholar 

Desmet FO, Hamroun D, Lalande M, Collod-Béroud G, Claustres M, Béroud C. Human Splicing Finder: an online bioinformatics tool to predict splicing signals. Nucleic Acids Res. 2009;37(9):e67–e67. https://doi.org/10.1093/nar/gkp215

Article  CAS  PubMed  PubMed Central  Google Scholar 

Schwarz JM, Hombach D, Köhler S, Cooper DN, Schuelke M, Seelow D. RegulationSpotter: annotation and interpretation of extratranscriptic DNA variants. Nucleic Acids Res. 2019;47(W1):W106–13. https://doi.org/10.1093/nar/gkz327

Article  CAS  PubMed  PubMed Central  Google Scholar 

Fadoni J, Santos A, Cainé L

Comments (0)

No login
gif