Renée Maas

179 Phospholamban R14del Cardiomyopathy: a systematic summary of the pathophysiological mechanisms 7 23. van der Zwaag, P. A. et al. 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. 14, 1199–1207 (2012). 24. van Opbergen, C. J. M., Delmar, M. & van Veen, T. A. B. Potential new mechanisms of pro-arrhythmia in arrhythmogenic cardiomyopathy: focus on calcium sensitive pathways. Netherlands Heart Journal vol. 25 157–169 Preprint at https://doi.org/10.1007/s12471-017-0946-7 (2017). 25. Taha, K. et al. Early Mechanical Alterations in Phospholamban Mutation Carriers: Identifying Subclinical Disease Before Onset of Symptoms. JACC Cardiovasc. Imaging 14, 885–896 (2021). 26. Haghighi, K. et al. A mutation in the human phospholamban gene, deleting arginine 14, results in lethal, hereditary cardiomyopathy. Proc. Natl. Acad. Sci. U. S. A. 103, (2006). 27. van Rijsingen, I. A. W. et al. Outcome in phospholamban R14del carriers: results of a large multicentre cohort study. Circ. Cardiovasc. Genet. 7, 455–465 (2014). 28. Te Riele, A. S. J. M. et al. Mutation-positive arrhythmogenic right ventricular dysplasia/cardiomyopathy: the triangle of dysplasia displaced. J. Cardiovasc. Electrophysiol. 24, 1311–1320 (2013). 29. van Rijsingen, I. A. W. et al. Outcome in phospholamban R14del carriers: results of a large multicentre cohort study. Circ. Cardiovasc. Genet. 7, 455–465 (2014). 30. Kamath, S. A. et al. Low voltage on the electrocardiogram is a marker of disease severity and a risk factor for adverse outcomes in patients with heart failure due to systolic dysfunction. Am. Heart J. 152, 355–361 (2006). 31. Te Rijdt, W. P. et al. Myocardial fibrosis as an early feature in phospholamban p.Arg14del mutation carriers: phenotypic insights from cardiovascular magnetic resonance imaging. Eur. Heart J. Cardiovasc. Imaging 20, 92–100 (2019). 32. Haghighi, K. et al. A mutation in the human phospholamban gene, deleting arginine 14, results in lethal, hereditary cardiomyopathy. Proc. Natl. Acad. Sci. U. S. A. 103, (2006). 33. DeWitt, M. M., MacLeod, H. M., Soliven, B. & McNally, E. M. Phospholamban R14 deletion results in late-onset, mild, hereditary dilated cardiomyopathy. J. Am. Coll. Cardiol. 48, (2006). 34. Posch, M. G. et al. Genetic deletion of arginine 14 in phospholamban causes dilated cardiomyopathy with attenuated electrocardiographic R amplitudes. Heart Rhythm 6, (2009). 35. Haghighi, K. et al. The human phospholamban Arg14-deletion mutant localizes to plasma membrane and interacts with the Na/K-ATPase. J. Mol. Cell. Cardiol. 52, (2012). 36. Ceholski, D. K., Trieber, C. A. & Young, H. S. Hydrophobic imbalance in the cytoplasmic domain of phospholamban is a determinant for lethal dilated cardiomyopathy. J. Biol. Chem. 287, 16521–16529 (2012). 37. van der Zwaag, P. A. et al. 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. 14, 1199–1207 (2012). 38. van der Zwaag, P. A. et al. Recurrent and founder mutations in the Netherlands-Phospholamban p.Arg14del mutation causes arrhythmogenic cardiomyopathy. Neth. Heart J. 21, 286–293 (2013). 39. van der Heijden, J. F. & Hassink, R. J. The phospholamban p.Arg14del founder mutation in Dutch patients with arrhythmogenic cardiomyopathy. Neth. Heart J. 21, 284–285 (2013). 40. Groeneweg, J. A. et al. Arrhythmogenic right ventricular dysplasia/cardiomyopathy according to revised 2010 task force criteria with inclusion of non-desmosomal phospholamban mutation carriers. Am. J. Cardiol. 112, 1197–1206 (2013). 41. Gho, J. M. I. H. et al. High resolution systematic digital histological quantification of cardiac fibrosis and adipose tissue in phospholamban p.Arg14del mutation associated cardiomyopathy. PLoS One 9, e94820 (2014). 42. van Rijsingen, I. A. W. et al. Outcome in phospholamban R14del carriers: results of a large multicentre cohort study. Circ. Cardiovasc. Genet. 7, 455–465 (2014). 43. Bhonsale, A. et al. Impact of genotype on clinical course in arrhythmogenic right ventricular dysplasia/ cardiomyopathy-associated mutation carriers. Eur. Heart J. 36, 847–855 (2015). 44. Vostrikov, V. V., Soller, K. J., Ha, K. N., Gopinath, T. & Veglia, G. Effects of naturally occurring arginine 14 deletion on phospholamban conformational dynamics and membrane interactions. Biochim. Biophys. Acta 1848, 315–322 (2015).

RkJQdWJsaXNoZXIy MTk4NDMw