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Abstract Background The arrhythmogenic cardiomyopathy (ACM) phenotype, with life-threatening ventricular arrhythmias and heart failure, varies according to genetic aetiology. We aimed to characterise the phenotype associated with the variant c.1211dup (p.Val406Serfs*4) in the plakophilin‑2 gene (PKP2) and compare it with previously reported Dutch PKP2 founder variants. Methods Clinical data were collected retrospectively from medical records of 106 PKP2 c.1211dup heterozygous carriers.
EP Europace, Mar 2023 This is a preview of a remote PDF: https://academic.oup.com/europace/article-pdf/25/3/1035/49704133/euac278.pdf Hoogendoorn, Jarieke C, Venlet, Jeroen, de Riva, Marta, Wijnmaalen, Adrianus P, Piers, Sebastiaan R D, Zeppenfeld, Katja. , EP Europace, 2023, pp. 1035-1040, Volume 25, Issue 3, DOI: 10.1093/europace/euac278
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