195 Phospholamban R14del Cardiomyopathy: a systematic summary of the pathophysiological mechanisms 7 66: Karakikes I, Stillitano F, Nonnenmacher M, Tzimas C, Sanoudou D, Termglinchan V, Kong CW, Rushing S, Hansen J, Ceholski D, Kolokathis F, Kremastinos D, Katoulis A, Ren L, Cohen N, Gho JMIH, Tsiapras D, Vink A, Wu JC, Asselbergs FW, Li RA, Hulot JS, Kranias EG, Hajjar RJ. Correction of human phospholamban R14del mutation associated with cardiomyopathy using targeted nucleases and combination therapy. Nat Commun. 2015 Apr 29;6:6955. doi:10.1038/ncomms7955. PMID: 25923014; PMCID: PMC4421839. 67: Fish M, Shaboodien G, Kraus S, Sliwa K, Seidman CE, Burke MA, Crotti L, Schwartz PJ, Mayosi BM. Mutation analysis of the phospholamban gene in 315 South Africans with dilated, hypertrophic, peripartum and arrhythmogenic right ventricular cardiomyopathies. Sci Rep. 2016 Feb 26;6:22235. doi: 10.1038/ srep22235. Erratum in: Sci Rep. 2016 May 18;6:25863. PMID: 26917049; PMCID: PMC4808831. 68: López-Ayala JM, Boven L, van den Wijngaard A, Peñafiel-Verdú P, van Tintelen JP, Gimeno JR. Phospholamban p.arg14del mutation in a Spanish family with arrhythmogenic cardiomyopathy: evidence for a European founder mutation. Rev Esp Cardiol (Engl Ed). 2015 Apr;68(4):346-9. doi: 10.1016/j.rec.2014.11.012. Epub 2015 Feb 17. PMID: 25700660. 69: Vostrikov VV, Soller KJ, Ha KN, Gopinath T, Veglia G. Effects of naturally occurring arginine 14 deletion on phospholamban conformational dynamics and membrane interactions. Biochim Biophys Acta. 2015 Jan;1848(1 Pt B):315-22. doi:10.1016/j.bbamem.2014.09.007. Epub 2014 Sep 22. PMID: 25251363; PMCID:PMC4258429. 70: Young HS, Ceholski DK, Trieber CA. Deception in simplicity: hereditary phospholamban mutations in dilated cardiomyopathy. Biochem Cell Biol. 2015 Feb;93(1):1-7. doi: 10.1139/bcb-2014-0080. Epub 2014 Dec 1. PMID: 25563649. 71: Bhonsale A, Groeneweg JA, James CA, Dooijes D, Tichnell C, Jongbloed JDH, et al. Impact of genotype on clinical course in arrhythmogenic right ventricular dysplasia/cardiomyopathy-associated mutation carriers. Eur Heart J. 2015 Apr 7;36(14):847–55. 72: van Rijsingen IA, van der Zwaag PA, Groeneweg JA, Nannenberg EA, Jongbloed JD, Zwinderman AH, Pinto YM, Dit Deprez RH, Post JG, Tan HL, de Boer RA, Hauer RN, Christiaans I, van den Berg MP, van Tintelen JP, Wilde AA. Outcome in phospholamban R14del carriers: results of a large multicentre cohort study. Circ Cardiovasc Genet. 2014 Aug;7(4):455-65. doi: 10.1161/CIRCGENETICS.113.000374. Epub 2014 Jun 8. PMID: 24909667. 73: Gho JM, van Es R, Stathonikos N, Harakalova M, te Rijdt WP, Suurmeijer AJ, van der Heijden JF, de Jonge N, Chamuleau SA, de Weger RA, Asselbergs FW, Vink A. High resolution systematic digital histological quantification of cardiac fibrosis and adipose tissue in phospholamban p.Arg14del mutation associated cardiomyopathy. PLoS One. 2014 Apr 14;9(4):e94820. doi:10.1371/journal.pone.0094820. PMID: 24732829; PMCID: PMC3986391. 74: Groeneweg JA, van der Zwaag PA, Olde Nordkamp LR, Bikker H, Jongbloed JD, Jongbloed R, Wiesfeld AC, Cox MG, van der Heijden JF, Atsma DE, de Boer K, Doevendans PA, Vink A, van Veen TA, Dooijes D, van den Berg MP, Wilde AA, van Tintelen JP, Hauer RN. Arrhythmogenic right ventricular dysplasia/ cardiomyopathy according to revised 2010 task force criteria with inclusion of non-desmosomal phospholamban mutation carriers. Am J Cardiol. 2013 Oct 15;112(8):1197-206. doi:10.1016/j. amjcard.2013.06.017. Epub 2013 Jul 19. PMID: 23871674. 75: van der Heijden JF, Hassink RJ. The phospholamban p.Arg14del founder mutation in Dutch patients with arrhythmogenic cardiomyopathy. Neth Heart J. 2013 Jun;21(6):284-5. doi: 10.1007/s12471-013-0413-z. PMID: 23595706; PMCID:PMC3661881. 76: van der Zwaag PA, van Rijsingen IA, de Ruiter R, Nannenberg EA, Groeneweg JA, Post JG, Hauer RN, van Gelder IC, van den Berg MP, van der Harst P, Wilde AA, van Tintelen JP. Recurrent and founder mutations in the Netherlands-Phospholamban p.Arg14del mutation causes arrhythmogenic cardiomyopathy. Neth Heart J. 2013 Jun;21(6):286-93. doi: 10.1007/s12471-013-0401-3. PMID: 23568436;PMCID: PMC3661879. 77: van der Zwaag PA, van Rijsingen IA, Asimaki A, Jongbloed JD, van Veldhuisen DJ, Wiesfeld AC, Cox MG, van Lochem LT, de Boer RA, Hofstra RM, Christiaans I, van Spaendonck-Zwarts KY, Lekanne dit Deprez RH, Judge DP, Calkins H, Suurmeijer AJ, Hauer RN, Saffitz JE, Wilde AA, van den Berg MP, van Tintelen JP. Phospholamban R14del mutation in patients diagnosed with dilated cardiomyopathy or arrhythmogenic right ventricular cardiomyopathy: evidence supporting the concept of arrhythmogenic cardiomyopathy. Eur J Heart Fail. 2012 Nov;14(11):1199-207. doi: 10.1093/eurjhf/hfs119. Epub 2012 Jul 20. PMID: 22820313; PMCID: PMC3475434.
RkJQdWJsaXNoZXIy MTk4NDMw