Prevalence and cardiac phenotype of patients with aphospholamban mutation

Hof, I. E., van der Heijden, J. F., Kranias, E. G., Sanoudou, D., de Boer, R. A., van Tintelen, J. P., van der Zwaag, P. A. & Doevendans, P. A., Feb-2019, In : Netherlands Heart Hournal. 27, 2, p. 64-69 6 p.

Research output: Contribution to journalArticleAcademicpeer-review

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 ahigh frequency of ventricular arrhythmias. Additionally, these patients have apoor prognosis often with left ventricular dysfunction and early-onset heart failure. Therefore, when there is asuspicion of aPLN mutation, cardiac and genetic screening is strongly recommended.

Original languageEnglish
Pages (from-to)64-69
Number of pages6
JournalNetherlands Heart Hournal
Issue number2
Publication statusPublished - Feb-2019


  • Phospholamban, Arrhythmogenic cardiomyopathy, Dilated cardiomyopathy, Phenotype, PHOSPHOLAMBAN P.ARG14DEL MUTATION, DILATED CARDIOMYOPATHY, ESC GUIDELINES, CARRIERS, LETHAL

Download statistics

No data available

ID: 92093866