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Review
. 2019 Feb;27(2):64-69.
doi: 10.1007/s12471-018-1211-4.

Prevalence and cardiac phenotype of patients with a phospholamban mutation

I E Hof  1 , J F van der Heijden  2 , E G Kranias  3 , D Sanoudou  4 , R A de Boer  5 , J P van Tintelen  6 , P A van der Zwaag  7 , P A Doevendans  2   8   9
Affiliations
Review

Prevalence and cardiac phenotype of patients with a phospholamban mutation

I E Hof et al. Neth Heart J. 2019 Feb.

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.

Keywords: Arrhythmogenic cardiomyopathy; Dilated cardiomyopathy; Phenotype; Phospholamban.

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Conflict of interest statement

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 and P.A. Doevendans declare that they have no competing interests.

Figures

Fig. 1
Fig. 1
Postal code map showing the distribution of PLN p.Arg14del mutation carriers in the Netherlands. The number of PLN R14del mutation carriers per region is shown (in parentheses: the number of postal code regions, 90 in total)
Fig. 2
Fig. 2
Electrocardiogram of a patient with the PLN R14del mutation, with low voltages in the standard leads and negative T waves in left precordial leads V4 to V6
See this image and copyright information in PMC

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