Walsh R, Cook SA (2017) Issues and challenges in diagnostic sequencing for inherited cardiac conditions. Clin Chem 63(1):116–128. https://doi.org/10.1373/clinchem.2016.254698
Article CAS PubMed Google Scholar
Martinez HR, Beasley GS, Miller N et al (2021) Clinical insights into heritable cardiomyopathies. Front Genet 12:650. https://doi.org/10.3389/FGENE.2021.663450/BIBTEX
Garcia-Elias A, Benito B (2018) Ion channel disorders and sudden cardiac death. Int J Mol Sci 19(3):692. https://doi.org/10.3390/IJMS19030692
Article PubMed PubMed Central Google Scholar
Harper AR, Goel A, Grace C et al (2021) Common genetic variants and modifiable risk factors underpin hypertrophic cardiomyopathy susceptibility and expressivity. Nat Genet 532(53):135–142. https://doi.org/10.1038/s41588-020-00764-0
Walsh R, Tadros R, Bezzina CR (2020) When genetic burden reaches threshold. Eur Heart J 41:3849–3855. https://doi.org/10.1093/EURHEARTJ/EHAA269
Article CAS PubMed PubMed Central Google Scholar
Nunn LM, Lambiase PD (2011) Genetics and cardiovascular disease - causes and prevention of unexpected sudden adult death: the role of the SADS clinic. Heart 97:1122–1127. https://doi.org/10.1136/hrt.2010.218511
Article CAS PubMed Google Scholar
Musunuru K, Hershberger RE, Day SM et al (2020) Genetic testing for inherited cardiovascular diseases: a scientific statement from the American Heart Association. Circ Genomic Precis Med 13:373–385. https://doi.org/10.1161/HCG.0000000000000067
Girolami F, Frisso G, Benelli M et al (2018) Contemporary genetic testing in inherited cardiac disease: tools, ethical issues, and clinical applications. J Cardiovasc Med (Hagerstown) 19:1. https://doi.org/10.2459/JCM.0000000000000589
Ghosh R, Harrison SM, Rehm HL et al (2018) Updated recommendation for the benign stand-alone ACMG/AMP criterion. Hum Mutat 39:1525–1530. https://doi.org/10.1002/HUMU.23642
Article PubMed PubMed Central Google Scholar
Clinical Genome Resource (2021) ClinGen sequence variant interpretation recommendation for de novo criteria (PS2/PM6). Available from: https://clinicalgenome.org/working-groups/sequence-variant-interpretation/
Brnich SE, Abou Tayoun AN, Couch FJ et al (2019) Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework. Genome Med 12:1–12. https://doi.org/10.1186/S13073-019-0690-2/TABLES/3
Biesecker LG, Harrison SM (2018) The ACMG/AMP reputable source criteria for the interpretation of sequence variants. Genet Med 2012(20):1687–1688. https://doi.org/10.1038/gim.2018.42
Sophia Genetics Sequence Variant Interpretation Software: Alamut Visual Plus. Available from: https://www.sophiagenetics.com/platform/alamut-visual-plus/
Karczewski KJ, Francioli LC, Tiao G et al (2020) The mutational constraint spectrum quantified from variation in 141,456 humans. Nat 5817809(581):434–443. https://doi.org/10.1038/s41586-020-2308-7
Landrum MJ, Lee JM, Riley GR et al (2014) ClinVar: public archive of relationships among sequence variation and human phenotype. Nucleic Acids Res 42:D980. https://doi.org/10.1093/NAR/GKT1113
Article CAS PubMed Google Scholar
Kopanos C, Tsiolkas V, Kouris A et al (2019) VarSome: the human genomic variant search engine. Bioinformatics 35:1978. https://doi.org/10.1093/BIOINFORMATICS/BTY897
Article CAS PubMed Google Scholar
Da E, Rodrigues S, Griffith S et al (2022) Variant-level matching for diagnosis and discovery: challenges and opportunities. Hum Mutat. https://doi.org/10.1002/HUMU.24359
National Center for Biotechnology Information (NCBI) [Internet]. Bethesda (MD): National Library of Medicine (US), National Center for Biotechnology Information; [1988] – [cited 2023 Sept 19]. Available from: https://pubmed.ncbi.nlm.nih.gov/
Hamosh A, Scott AF, Amberger JS et al (2005) Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders. Nucleic Acids Res 33:D514–D517. https://doi.org/10.1093/NAR/GKI033
Article CAS PubMed Google Scholar
van Lint FHM, Mook ORF, Alders M et al (2019) Large next-generation sequencing gene panels in genetic heart disease: yield of pathogenic variants and variants of unknown significance. Netherlands Hear J. https://doi.org/10.1007/s12471-019-1250-5
Alfares AA, Kelly MA, McDermott G et al (2015) Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity. Genet Med. https://doi.org/10.1038/gim.2014.205
Le Scouarnec S, Karakachoff M, Gourraud JB et al (2015) Testing the burden of rare variation in arrhythmia-susceptibility genes provides new insights into molecular diagnosis for Brugada syndrome. Hum Mol Genet 24:2757–2763. https://doi.org/10.1093/HMG/DDV036
Pugh TJ, Kelly MA, Gowrisankar S et al (2014) The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing. Genet Med 16:601–608. https://doi.org/10.1038/GIM.2013.204/ATTACHMENT/49FB8C1E-1712-4D23-AEB4-160959380105/MMC3.PDF
Article CAS PubMed Google Scholar
Ackerman MJ, Priori SG, Willems S et al (2011) 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). Hear Rhythm 8:1308–1339. https://doi.org/10.1016/J.HRTHM.2011.05.020
Bai R, Napolitano C, Bloise R et al (2009) Yield of genetic screening in inherited cardiac channelopathies how to prioritize access to genetic testing. Circ Arrhythmia Electrophysiol 2:6–15. https://doi.org/10.1161/CIRCEP.108.782888
Crotti L, Marcou CA, Tester DJ et al (2012) Spectrum and prevalence of mutations involving Br S1- through BrS12-susceptibility genes in a cohort of unrelated patients referred for Brugada syndrome genetic testing: implications for genetic testing. J Am Coll Cardiol 60:1410–1418. https://doi.org/10.1016/J.JACC.2012.04.037
Article CAS PubMed PubMed Central Google Scholar
Van DSL, Ommen SR, Tajik AJ et al (2005) Yield of genetic testing in hypertrophic cardiomyopathy. Mayo Clin Proc 80:739–744. https://doi.org/10.4065/80.6.739
Van Spaendonck-Zwarts KY, Van Rijsingen IAW, Van Den Berg MP et al (2013) Genetic analysis in 418 index patients with idiopathic dilated cardiomyopathy: overview of 10 years’ experience. Eur J Heart Fail 15:628–636. https://doi.org/10.1093/EURJHF/HFT013
McKenna WJ, Judge DP (2020) Epidemiology of the inherited cardiomyopathies. Nat Rev Cardiol 181(18):22–36. https://doi.org/10.1038/s41569-020-0428-2
Butters A, Lakdawala NK, Ingles J (2021) Sex differences in hypertrophic cardiomyopathy: interaction with genetics and environment. Curr Heart Fail Rep 18:264. https://doi.org/10.1007/S11897-021-00526-X
Article PubMed PubMed Central Google Scholar
Lakdawala NK, Olivotto I, Day SM et al (2021) Associations between female sex, sarcomere variants, and clinical outcomes in hypertrophic cardiomyopathy. Circ Genomic Precis Med 14:3062. https://doi.org/10.1161/CIRCGEN.120.003062
Watkins H (2021) Time to think differently about sarcomere-negative hypertrophic cardiomyopathy. Circulation 143:2415–2417. https://doi.org/10.1161/CIRCULATIONAHA.121.053527
Van Der Crabben SN, Mörner S, Lundström AC et al (2022) Should variants of unknown significance (VUS) be disclosed to patients in cardiogenetics or not; only in case of high suspicion of pathogenicity? Eur J Hum Genet 30:1208–1210. https://doi.org/10.1038/s41431-022-01173-z
Article PubMed PubMed Central Google Scholar
Richards S, Aziz N, Bale S et al (2015) 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. https://doi.org/10.1038/gim.2015.30
Article PubMed PubMed Central Google Scholar
Landstrom AP, Kim JJ, Gelb BD et al (2021) Genetic testing for heritable cardiovascular diseases in pediatric patients: a scientific statement from the American Heart Association. Circ Genomic Precis Med 14:e000086. https://doi.org/10.1161/HCG.0000000000000086
Arbustini E, Behr ER, Carrier L et al (2022) Interpretation and actionability of genetic variants in cardiomyopathies: a position statement from the European Society of Cardiology Council on cardiovascular genomics. Eur Heart J. https://doi.org/10.1093/EURHEARTJ/EHAB895
Walsh R, Lahrouchi N, Tadros R et al (2020) Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls. Genet Med 231(23):47–58. https://doi.org/10.1038/s41436-020-00946-5
VanDyke RE, Hashimoto S, Morales A et al (2021) Impact of variant reclassification in the clinical setting of cardiovascular genetics. J Genet Couns 30:503–512. https://doi.org/10.1002/JGC4.1336
Rehm HL, Berg JS, Brooks LD et al (2015) ClinGen — the clinical genome resource. N Engl J Med 372:2235–2242. https://doi.org/10.1056/NEJMSR1406261/SUPPL_FILE/NEJMSR1406261_DISCLOSURES.PDF
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