<?xml version="1.0" encoding="UTF-8"?><xml><records><record><source-app name="Biblio" version="7.x">Drupal-Biblio</source-app><ref-type>17</ref-type><contributors><authors><author><style face="normal" font="default" size="100%">Hof, I. E.</style></author><author><style face="normal" font="default" size="100%">van der Heijden, J. F.</style></author><author><style face="normal" font="default" size="100%">Kranias, EG</style></author><author><style face="normal" font="default" size="100%">Sanoudou, D.</style></author><author><style face="normal" font="default" size="100%">de Boer, R. A.</style></author><author><style face="normal" font="default" size="100%">van Tintelen, J. P.</style></author><author><style face="normal" font="default" size="100%">van der Zwaag, P. A.</style></author><author><style face="normal" font="default" size="100%">Doevendans, P. A.</style></author></authors></contributors><titles><title><style face="normal" font="default" size="100%">Prevalence and cardiac phenotype of patients with a phospholamban mutation</style></title><secondary-title><style face="normal" font="default" size="100%">Neth Heart JNeth Heart JNeth Heart J</style></secondary-title><alt-title><style face="normal" font="default" size="100%">Netherlands heart journal : monthly journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation</style></alt-title><short-title><style face="normal" font="default" size="100%">Netherlands heart journal : monthly journal of the Netherlands Society of Cardiology and the Netherlands Heart FoundationNetherlands heart journal : monthly journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation</style></short-title></titles><dates><year><style  face="normal" font="default" size="100%">2019</style></year><pub-dates><date><style  face="normal" font="default" size="100%">Feb</style></date></pub-dates></dates><number><style face="normal" font="default" size="100%">2</style></number><volume><style face="normal" font="default" size="100%">27</style></volume><pages><style face="normal" font="default" size="100%">64-69</style></pages><isbn><style face="normal" font="default" size="100%">1568-5888 (Print)1568-5888 (Linking)</style></isbn><language><style face="normal" font="default" size="100%">eng</style></language><abstract><style face="normal" font="default" size="100%">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.</style></abstract><accession-num><style face="normal" font="default" size="100%">30547415</style></accession-num><notes><style face="normal" font="default" size="100%">Hof, I Evan der Heijden, J FKranias, E GSanoudou, Dde Boer, R Avan Tintelen, J Pvan der Zwaag, P ADoevendans, P AengReviewNetherlands2018/12/14 06:00Neth Heart J. 2019 Feb;27(2):64-69. doi: 10.1007/s12471-018-1211-4.</style></notes><custom2><style face="normal" font="default" size="100%">6352623</style></custom2><auth-address><style face="normal" font="default" size="100%">Department of Cardiology, University Medical Center Utrecht, Utrecht, The Netherlands. i.e.hof@umcutrecht.nl.Department of Cardiology, University Medical Center Utrecht, Utrecht, The Netherlands.Department of Pharmacology and Cell Biophysics, University of Cincinnati College of Medicine, Cincinnati, OH, USA.Department of Molecular Biology, Center of Basic Research, Biomedical Research Foundation of the Academy of Athens, Athens, Greece.Department of Cardiology, University Medical Center Groningen, Groningen, The Netherlands.Department of Clinical Genetics, Academic Medical Center, Amsterdam, The Netherlands.Department of Clinical Genetics, University Medical Center Groningen, Groningen, The Netherlands.Department of Cardiology, Central Military Hospital, Utrecht, The Netherlands.Netherlands Heart Institute, Utrecht, The Netherlands.</style></auth-address></record></records></xml>