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Variant Location Is a Novel Risk Factor for Individuals With Arrhythmogenic Cardiomyopathy Due to a Desmoplakin (DSP) Truncating Variant.
Hoorntje ET, Burns C, Marsili L, Corden B, Parikh VN, Te Meerman GJ, Gray B, Adiyaman A, Bagnall RD, Barge-Schaapveld DQCM, van den Berg MP, Bootsma M, Bosman LP, Correnti G, Duflou J, Eppinga RN, Fatkin D, Fietz M, Haan E, Jongbloed JDH, Hauer AD, Lam L, van Lint FHM, Lota A, Marcelis C, McCarthy HJ, van Mil AM, Oldenburg RA, Pachter N, Planken RN, Reuter C, Semsarian C, van der Smagt JJ, Thompson T, Vohra J, Volders PGA, van Waning JI, Whiffin N, van den Wijngaard A, Amin AS, Wilde AAM, van Woerden G, Yeates L, Zentner D, Ashley EA, Wheeler MT, Ware JS, van Tintelen JP, Ingles J. Hoorntje ET, et al. Among authors: van lint fhm. Circ Genom Precis Med. 2023 Feb;16(1):e003672. doi: 10.1161/CIRCGEN.121.003672. Epub 2022 Dec 29. Circ Genom Precis Med. 2023. PMID: 36580316 Free PMC article. Review.
Integrating Exercise Into Personalized Ventricular Arrhythmia Risk Prediction in Arrhythmogenic Right Ventricular Cardiomyopathy.
Bosman LP, Wang W, Lie ØH, van Lint FHM, Rootwelt-Norberg C, Murray B, Tichnell C, Cadrin-Tourigny J, van Tintelen JP, Asselbergs FW, Calkins H, Te Riele ASJM, Haugaa KH, James CA. Bosman LP, et al. Among authors: van lint fhm. Circ Arrhythm Electrophysiol. 2022 Feb;15(2):e010221. doi: 10.1161/CIRCEP.121.010221. Epub 2022 Jan 28. Circ Arrhythm Electrophysiol. 2022. PMID: 35089054
Exercise does not influence development of phenotype in PLN p.(Arg14del) cardiomyopathy.
van Lint FHM, Hassanzada F, Verstraelen TE, Wang W, Bosman LP, van der Zwaag PA, Oomen T, Calkins H, Murray B, Tichnell C, Beuren TMA, Asselbergs FW, Houweling A, van den Berg MP, Wilde AAM, James CA, van Tintelen JP. van Lint FHM, et al. Neth Heart J. 2023 Aug;31(7-8):291-299. doi: 10.1007/s12471-023-01800-4. Epub 2023 Jul 20. Neth Heart J. 2023. PMID: 37474840 Free PMC article.
MYH7 p.(Arg1712Gln) is pathogenic founder variant causing hypertrophic cardiomyopathy with overall relatively delayed onset.
Marsili L, van Lint FHM, Russo F, van Spaendonck-Zwarts KY, Ader F, Bichon ML, Faivre L, Houweling AC, Isidor B, Lekanne Deprez RH, Cox MGPJ, Wilde AAM, Mazel B, Mercier S, Dooijes D, Millat G, Nguyen K, Post JG, Richard P, van de Beek I, Vermeer AMC, Boven L, Jongbloed JDH, van Tintelen JP; European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart. Marsili L, et al. Among authors: van lint fhm. Neth Heart J. 2023 Aug;31(7-8):300-307. doi: 10.1007/s12471-023-01798-9. Epub 2023 Jul 24. Neth Heart J. 2023. PMID: 37488328 Free PMC article.
Arrhythmogenic Right Ventricular Cardiomyopathy-Associated Desmosomal Variants Are Rarely De Novo.
van Lint FHM, Murray B, Tichnell C, Zwart R, Amat N, Lekanne Deprez RH, Dittmann S, Stallmeyer B, Calkins H, van der Smagt JJ, van den Wijngaard A, Dooijes D, van der Zwaag PA, Schulze-Bahr E, Judge DP, Jongbloed JDH, van Tintelen JP, James CA. van Lint FHM, et al. Circ Genom Precis Med. 2019 Aug;12(8):e002467. doi: 10.1161/CIRCGEN.119.002467. Epub 2019 Aug 6. Circ Genom Precis Med. 2019. PMID: 31386562 Free article.
Prediction of ventricular arrhythmia in phospholamban p.Arg14del mutation carriers-reaching the frontiers of individual risk prediction.
Verstraelen TE, van Lint FHM, Bosman LP, de Brouwer R, Proost VM, Abeln BGS, Taha K, Zwinderman AH, Dickhoff C, Oomen T, Schoonderwoerd BA, Kimman GP, Houweling AC, Gimeno-Blanes JR, Asselbergs FW, van der Zwaag PA, de Boer RA, van den Berg MP, van Tintelen JP, Wilde AAM. Verstraelen TE, et al. Among authors: van lint fhm. Eur Heart J. 2021 Jul 31;42(29):2842-2850. doi: 10.1093/eurheartj/ehab294. Eur Heart J. 2021. PMID: 34113975 Free PMC article.
Long-term reliability of the phospholamban (PLN) p.(Arg14del) risk model in predicting major ventricular arrhythmia: a landmark study.
van der Heide MYC, Verstraelen TE, van Lint FHM, Bosman LP, de Brouwer R, Proost VM, van Drie E, Taha K, Zwinderman AH, Dickhoff C, Schoonderwoerd BA, Germans T, Houweling AC, Gimeno-Blanes JR, van der Zwaag PA, de Boer RA, Cox MGPJ, van Tintelen JP, Wilde AAM. van der Heide MYC, et al. Among authors: van lint fhm. Europace. 2024 Mar 30;26(4):euae069. doi: 10.1093/europace/euae069. Europace. 2024. PMID: 38558121 Free PMC article.