Renée Maas

21 General Introduction and Thesis Outline 1 REFERENCES 1. Towbin, J. A. INHERITED CARDIOMYOPATHIES. Circ. J. 78, 2347 (2014). 2. Robson, A. New insights into the genetics of cardiomyopathies. Nat. Rev. Cardiol. 18, 229–229 (2021). 3. Kaviarasan, V., Mohammed, V. & Veerabathiran, R. Genetic predisposition study of heart failure and its association with cardiomyopathy. The Egyptian Heart Journal 74, 1–17 (2022). 4. Lahoti, N., Jabbour, R. J., Ariff, B. & Wang, B. X. Cardiac MRI in cardiomyopathies. Future Cardiology vol. 18 51–65 Preprint at https://doi.org/10.2217/fca-2020-0233 (2022). 5. Bhuiyan, Z. Review of: ‘Penetrance and disease expression of (likely) pathogenic variants associated with inherited cardiomyopathies in the general population’. Preprint at https://doi.org/10.32388/c17hcm (2022). 6. Pugh, T. J. et al. The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing. Genetics in Medicine vol. 16 601–608 Preprint at https://doi.org/10.1038/gim.2013.204 (2014). 7. Akhtar, M. & Elliott, P. The genetics of hypertrophic cardiomyopathy. Glob Cardiol Sci Pract 2018, 36 (2018). 8. Groeneweg, J. A. et al. Clinical Presentation, Long-Term Follow-Up, and Outcomes of 1001 Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Patients and Family Members. Circ. Cardiovasc. Genet. 8, 437–446 (2015). 9. 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, (2013). 10. Cheung, C. C. et al. Phospholamban cardiomyopathy: a Canadian perspective on a unique population. Neth. Heart J. 27, 208–213 (2019). 11. 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, 1396–1398 (2006). 12. 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, 1388–1393 (2006). 13. Jiang, X. et al. The phenotypic characteristic observed by cardiac magnetic resonance in a PLN-R14del family. Scientific Reports vol. 10 Preprint at https://doi.org/10.1038/s41598-020-73359-8 (2020). 14. López-Ayala, J. M. et al. Phospholamban p.arg14del Mutation in a Spanish Family With Arrhythmogenic Cardiomyopathy: Evidence for a European Founder Mutation. Revista Española de Cardiología (English Edition) vol. 68 346–349 Preprint at https://doi.org/10.1016/j.rec.2014.11.012 (2015). 15. Posch, M. G. et al. Genetic deletion of arginine 14 in phospholamban causes dilated cardiomyopathy with attenuated electrocardiographic R amplitudes. Heart Rhythm 6, 480–486 (2009). 16. Haghighi, K., Bidwell, P. & Kranias, E. G. Phospholamban Interactome in Cardiac Contractility and Survival: A New Vision of an OLD Friend. J. Mol. Cell. Cardiol. 0, 160 (2014). 17. Vafiadaki, E., Haghighi, K., Arvanitis, D. A., Kranias, E. G. & Sanoudou, D. Aberrant PLN-R14del Protein Interactions Intensify SERCA2a Inhibition, Driving Impaired Ca2+ Handling and Arrhythmogenesis. Int. J. Mol. Sci. 23, (2022). 18. 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). 19. Te Rijdt, W. P. et al. Phospholamban p.Arg14del cardiomyopathy is characterized by phospholamban aggregates, aggresomes, and autophagic degradation. Histopathology 69, 542–550 (2016). 20. Hof, I. E. et al. Prevalence and cardiac phenotype of patients with a phospholamban mutation. Neth. Heart J. 27, 64–69 (2019). 21. Sepehrkhouy, S. et al. Distinct fibrosis pattern in desmosomal and phospholamban mutation carriers in hereditary cardiomyopathies. Heart Rhythm 14, 1024–1032 (2017). 22. Zwaag, P. A. van der et al. Phospholamban R14del mutation in patients diagnosed with dilated cardiomyopathy or arrhythmogenic right ventricular cardiomyopathy: evidence supporting the concept of arrhythmogenic cardiomyopathy. European Journal of Heart Failure vol. 14 1199–1207 Preprint at https://doi.org/10.1093/eurjhf/ hfs119 (2012). 23. Vp, P. Cultivation of large cultures of HeLa cells in horse serum. Science 121, (1955).

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