Skip to main content


Swipe om te navigeren naar een ander artikel

13-12-2018 | Point of View | Uitgave 2/2019 Open Access

Netherlands Heart Journal 2/2019

Prevalence and cardiac phenotype of patients with a phospholamban mutation

Netherlands Heart Journal > Uitgave 2/2019
I. E. Hof, J. F. van der Heijden, E. G. Kranias, D. Sanoudou, R. A. de Boer, J. P. van Tintelen, P. A. van der Zwaag, P. A. Doevendans


Pathogenic mutations in the phospholamban (PLN) gene may give rise to inherited cardiomyopathies due to its role in calcium homeostasis. Several PLN mutations have been identified, with the R14del mutation being the most prevalent cardiomyopathy-related mutation in the Netherlands. It is present in patients diagnosed with arrhythmogenic cardiomyopathy as well as dilated cardiomyopathy. Awareness of the phenotype of this PLN mutation is of great importance, since many carriers remain to be identified. Patients with the R14del mutation are characterised by older age at onset, low-voltage electrocardiograms and a high frequency of ventricular arrhythmias. Additionally, these patients have a poor prognosis often with left ventricular dysfunction and early-onset heart failure. Therefore, when there is a suspicion of a PLN mutation, cardiac and genetic screening is strongly recommended.

Onze productaanbevelingen

Netherlands Heart Journal

Het Netherlands Heart Journal wordt uitgegeven in samenwerking met de Nederlandse Vereniging voor Cardiologie en de Nederlandse Hartstichting. Het tijdschrift is Engelstalig en wordt gratis beschikbaa ...

Over dit artikel

Andere artikelen Uitgave 2/2019

Netherlands Heart Journal 2/2019 Naar de uitgave