Key result
The phospholamban R14del mutation is a highly prevalent founder mutation in the Netherlands associated with arrhythmogenic and dilated cardiomyopathy, low-voltage ECGs, and a high risk of malignant ventricular arrhythmias.
Why the study?
Pathogenic phospholamban (PLN) mutations cause inherited cardiomyopathies, and awareness of the phenotype of the prevalent R14del mutation is critical because many carriers remain to be identified.
Awareness of the PLN R14del mutation phenotype is crucial for early identification and screening of carriers at risk for severe cardiomyopathies and arrhythmias.
Describes PLN R14del phenotype in Dutch patients; leaves open targeted screening and risk-stratification trials.
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.
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Hof et al. (2018) conducted a review in Phospholamban (PLN) mutation. Phospholamban (PLN) R14del mutation was evaluated. The phospholamban R14del mutation is a highly prevalent founder mutation in the Netherlands associated with arrhythmogenic and dilated cardiomyopathy, low-voltage ECGs, and a high risk of malignant ventricular arrhythmias.
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