Abstract
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.
Highlights
When there is a suspicion of a PLN mutation, cardiac and genetic screening is strongly recommended
This transport is enabled by the sarcoplasmic reticulum Ca2+ATPase pump (SERCA2a), which is regulated by PLN [1, 3]
The R14del mutation appeared to be the most prevalent cardiomyopathy-related mutation in the Netherlands, being present in 12% of patients diagnosed with arrhythmogenic cardiomyopathy (ACM) and 15% of patients with dilated cardiomyopathy (DCM) [2]
Summary
A. Doevendans Department of Cardiology, University Medical Center Utrecht, Utrecht, The Netherlands i.e.hof@umcutrecht.nl J. P. van Tintelen Department of Clinical Genetics, Academic Medical Center, Amsterdam, The Netherlands P. A. van der Zwaag Department of Clinical Genetics, University Medical Center Groningen, Groningen, The Netherlands Several mutations have been identified in the PLN gene in heart failure patients.
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Free) 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a call
