Should we offer preventive treatment to all carriers of PLN p.(Arg14del) variant?
Author:
Funder
Fondation Leducq
ZonMW
Publisher
Springer Science and Business Media LLC
Subject
Cardiology and Cardiovascular Medicine
Link
https://link.springer.com/content/pdf/10.1007/s12471-023-01794-z.pdf
Reference10 articles.
1. Van Rijsingen IAW, 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.
2. Van de Leur RR, Taha K, Bos MN, et al. Discovering and visualizing disease-specific electrocardiogram features using deep learning: proof-of-concept in phospholamban gene mutation carriers. Circ Arrhythm Electrophysiol. 2021;14:e9056. https://doi.org/10.1161/CIRCEP.120.009056.
3. Taha K, Mast TP, Cramer MJ, et al. Evaluation of disease progression in arrhythmogenic cardiomyopathy: the change of echocardiographic deformation characteristics over time. JACC Cardiovasc Imaging. 2020; https://doi.org/10.1016/j.jcmg.2019.08.014.
4. Eijgenraam TR, Boukens BJ, Boogerd CJ, et al. The phospholamban p.(Arg14del) pathogenic variant leads to cardiomyopathy with heart failure and is unreponsive to standard heart failure therapy. Sci Rep. 2020;10:9819. https://doi.org/10.1038/s41598-020-66656-9.
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; https://doi.org/10.1093/eurheartj/ehad292.
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