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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 tintelen jp. 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.
A randomized controlled trial of eplerenone in asymptomatic phospholamban p.Arg14del carriers.
de Brouwer R, Te Rijdt WP, Hoorntje ET, Amin A, Asselbergs FW, Cox MGPJ, van der Heijden JF, Hillege H, Karper JC, Mahmoud B, van der Meer P, Oomen A, Te Riele ASJM, Silljé HHW, Tan HL, van Tintelen JP, van Veldhuisen DJ, Westenbrink BD, Wiesfeld ACP, Willems TP, van der Zwaag PA, Wilde AAM, de Boer RA, van den Berg MP. de Brouwer R, et al. Among authors: van der heijden jf, van den berg mp, van der meer p, van der zwaag pa, van tintelen jp, van veldhuisen dj. Eur Heart J. 2023 Oct 21;44(40):4284-4287. doi: 10.1093/eurheartj/ehad292. Eur Heart J. 2023. PMID: 37210081 Free PMC article. No abstract available.
Lack of Evidence for the Role of the p.(Ser96Ala) Polymorphism in Histidine-Rich Calcium Binding Protein as a Secondary Hit in Cardiomyopathies.
van der Voorn SM, van Drie E, Proost V, Dimitrova K, Netherlands Acm/Pln Registry, Ernst RF, James CA, Tichnell C, Murray B, Calkins H, Saguner AM, Duru F, Ellinor PT, Bezzina CR, Jurgens SJ, van Tintelen JP, van Veen TAB. van der Voorn SM, et al. Among authors: van tintelen jp. Int J Mol Sci. 2023 Nov 3;24(21):15931. doi: 10.3390/ijms242115931. Int J Mol Sci. 2023. PMID: 37958923 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 tintelen jp. Europace. 2024 Mar 30;26(4):euae069. doi: 10.1093/europace/euae069. Europace. 2024. PMID: 38558121 Free PMC article.
Influence of stressful life events and personality traits on PLN cardiomyopathy severity: an exploratory study.
van Drie E, Taal SEL, Schmidt AF, Verstraelen TE, de Brouwer R, Schoormans D, Mommersteeg PMC, de Boer RA, Wilde AAM, Asselbergs FW, Baas AF, van Tintelen JP, van den Heuvel LM. van Drie E, et al. Among authors: van tintelen jp. Europace. 2023 Dec 28;26(1):euad368. doi: 10.1093/europace/euad368. Europace. 2023. PMID: 38206619 Free PMC article. No abstract available.
Implantable cardioverter defibrillator use in arrhythmogenic right ventricular cardiomyopathy in North America and Europe.
Carrick RT, De Marco C, Gasperetti A, Bosman LP, Gourraud JB, Trancuccio A, Mazzanti A, Murray B, Pendleton C, Tichnell C, Tandri H, Zeppenfeld K, Wilde AAM, Davies B, Seifer C, Roberts JD, Healey JS, MacIntyre C, Alqarawi W, Tadros R, Cutler MJ, Targetti M, Calò L, Vitali F, Bertini M, Compagnucci P, Casella M, Dello Russo A, Cappelletto C, De Luca A, Stolfo D, Duru F, Jensen HK, Svensson A, Dahlberg P, Hasselberg NE, Di Marco A, Jordà P, Arbelo E, Moreno Weidmann Z, Borowiec K, Delinière A, Biernacka EK, van Tintelen JP, Platonov PG, Olivotto I, Saguner AM, Haugaa KH, Cox M, Tondo C, Merlo M, Krahn AD, Te Riele ASJM, Wu KC, Calkins H, James CA, Cadrin-Tourigny J. Carrick RT, et al. Among authors: van tintelen jp. Eur Heart J. 2024 Feb 16;45(7):538-548. doi: 10.1093/eurheartj/ehad799. Eur Heart J. 2024. PMID: 38195003 Free PMC article.
[2023 ESC Guidelines for the management of cardiomyopathies].
Arbelo E, Protonotarios A, Gimeno JR, Arbustini E, Barriales-Villa R, Basso C, Bezzina CR, Biagini E, Blom NA, de Boer RA, De Winter T, Elliott PM, Flather M, Garcia-Pavia P, Haugaa KH, Ingles J, Jurcut RO, Klaassen S, Limongelli G, Loeys B, Mogensen J, Olivotto I, Pantazis A, Sharma S, Van Tintelen JP, Ware JS, Kaski JP; ESC Scientific Document Group. Arbelo E, et al. Among authors: van tintelen jp. G Ital Cardiol (Rome). 2023 Nov;24(11 Suppl 1):e1-e127. doi: 10.1714/4127.41209. G Ital Cardiol (Rome). 2023. PMID: 37901944 Italian. No abstract available.
Identification of novel genetic risk factors of dilated cardiomyopathy: from canine to human.
Niskanen JE, Ohlsson Å, Ljungvall I, Drögemüller M, Ernst RF, Dooijes D, van Deutekom HWM, van Tintelen JP, Snijders Blok CJB, van Vugt M, van Setten J, Asselbergs FW, Petrič AD, Salonen M, Hundi S, Hörtenhuber M; DoGA consortium; Kere J, Pyle WG, Donner J, Postma AV, Leeb T, Andersson G, Hytönen MK, Häggström J, Wiberg M, Friederich J, Eberhard J, Harakalova M, van Steenbeek FG, Wess G, Lohi H. Niskanen JE, et al. Among authors: van tintelen jp. Genome Med. 2023 Sep 18;15(1):73. doi: 10.1186/s13073-023-01221-3. Genome Med. 2023. PMID: 37723491 Free PMC article.
2023 ESC Guidelines for the management of cardiomyopathies.
Arbelo E, Protonotarios A, Gimeno JR, Arbustini E, Barriales-Villa R, Basso C, Bezzina CR, Biagini E, Blom NA, de Boer RA, De Winter T, Elliott PM, Flather M, Garcia-Pavia P, Haugaa KH, Ingles J, Jurcut RO, Klaassen S, Limongelli G, Loeys B, Mogensen J, Olivotto I, Pantazis A, Sharma S, Van Tintelen JP, Ware JS, Kaski JP; ESC Scientific Document Group. Arbelo E, et al. Among authors: van tintelen jp. Eur Heart J. 2023 Oct 1;44(37):3503-3626. doi: 10.1093/eurheartj/ehad194. Eur Heart J. 2023. PMID: 37622657 No abstract available.
Penetrance and Prognosis of MYH7 Variant-Associated Cardiomyopathies: Results From a Dutch Multicenter Cohort Study.
Jansen M, de Brouwer R, Hassanzada F, Schoemaker AE, Schmidt AF, Kooijman-Reumerman MD, Bracun V, Slieker MG, Dooijes D, Vermeer AMC, Wilde AAM, Amin AS, Lekanne Deprez RH, Herkert JC, Christiaans I, de Boer RA, Jongbloed JDH, van Tintelen JP, Asselbergs FW, Baas AF. Jansen M, et al. Among authors: van tintelen jp. JACC Heart Fail. 2024 Jan;12(1):134-147. doi: 10.1016/j.jchf.2023.07.007. Epub 2023 Aug 9. JACC Heart Fail. 2024. PMID: 37565978
233 results