Should we offer preventive treatment to all carriers of PLN p.(Arg14del) variant?
Author:
Publisher
Springer Science and Business Media LLC
Subject
Cardiology and Cardiovascular Medicine
Link
https://link.springer.com/content/pdf/10.1007/s12471-023-01793-0.pdf
Reference7 articles.
1. Van der Zwaag PA, van Rijsingen IA, Asimaki 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. 2012;14:1199–207. https://doi.org/10.1093/eurjhf/hfs119.
2. Van Rijsingen IA, van der Zwaag PA, Groeneweg JA, et al. Outcome in phospholamban R14del carriers: results of a large multicentre cohort study. Circ Cardiovasc Genet. 2014;7:455–65. https://doi.org/10.1161/CIRCGENETICS.113.000374.
3. Eijgenraam TR, Stege NM, Oliveira Nunes Teixeira V, et al. Antisense therapy attenuates phospholamban p.(Arg14del) cardiomyopathy in mice and reverses protein aggregation. Int J Mol Sci. 2022;23:2427. https://doi.org/10.3390/ijms23052427.
4. Eijgenraam TR, Boogerd CJ, Stege NM, et al. Protein aggregation is an early manifestation of phospholamban p.(Arg14del)-related cardiomyopathy: development of PLN-R14del-related cardiomyopathy. Circ Heart Fail. 2021;14:e8532. https://doi.org/10.1161/CIRCHEARTFAILURE.121.008532.
5. De Brouwer R, Te Rijdt WP, Hoorntje ET, et al. A randomized controlled trial of eplerenone in asymptomatic phospholamban p.Arg14del carriers. Eur Heart J.2023:ehad292. https://doi.org/10.1093/eurheartj/ehad292.
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1. “When you see a fork in the road, take it”—Yogi Berra;Netherlands Heart Journal;2023-07-24
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