Prevalence and cardiac phenotype of patients with a phospholamban mutation

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

doi:10.1007/s12471-018-1211-4

Prevalence and cardiac phenotype of patients with a phospholamban mutation

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

^*Corresponding author for this work

Research output: Contribution to journal › Article › Academic

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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.

Original language	English
Pages (from-to)	64-69
Number of pages	6
Journal	Netherlands Heart Journal
Volume	27
Issue number	2
DOIs	https://doi.org/10.1007/s12471-018-1211-4
Publication status	Published - Feb 2019
Externally published	Yes

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Publisher Copyright:
© 2018, The Author(s).

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Prevalence and cardiac phenotype of patients with a phospholamban mutationFinal published version, 1.49 MBLicence: CC BY

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title = "Prevalence and cardiac phenotype of patients with a phospholamban mutation",

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.",

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year = "2019",

month = feb,

doi = "10.1007/s12471-018-1211-4",

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TY - JOUR

T1 - Prevalence and cardiac phenotype of patients with a phospholamban mutation

AU - Hof, I. E.

AU - van der Heijden, J. F.

AU - Kranias, E. G.

AU - Sanoudou, D.

AU - de Boer, R. A.

AU - van Tintelen, J. P.

AU - van der Zwaag, P. A.

AU - Doevendans, P. A.

PY - 2019/2

Y1 - 2019/2

N2 - 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.

AB - 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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DO - 10.1007/s12471-018-1211-4

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VL - 27

SP - 64

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JO - Netherlands Heart Journal

JF - Netherlands Heart Journal

IS - 2

ER -

Prevalence and cardiac phenotype of patients with a phospholamban mutation

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