title: Dilated cardiomyopathy with profound segmental wall motion abnormalities and ventricular arrhythmia caused by the R541C mutation in the LMNA gene.
abstract: In laminopathies cardiac involvement is common with dilated cardiomyopathy associated with atrio-ventricular block and malignant ventricular arrhythmia found in vast majority of patients. However, the specific disease course can be very different even among members of the same family which makes genotype-phenotype correlations difficult. Here we describe a 19-year-old patient with the LMNA R541C mutation and compare the course of his disease with two previously reported cases of the same molecular defect. We found that our patient shared important features with the previously described other subjects: significant LV segmental contractility defects (dyskinesis of the inferior wall and akinesis of LV apex), the presence of LBBB without atrio-ventricular block on 12-lead standard ECG and ICD requirement. The important differences between our subject and previously reported cases were early presentation (first symptoms at the age of 11 years) and early, progressive LV dilatation. We conclude that the LMNA R541C mutation should be considered not only in patients with malignant ventricular arrhythmia and LV local wall motion abnormalities, but also in classic dilated cardiomyopathy with profound segmental LV contractility defects.
authors.forename: Michał
authors.initials: M
authors.lastname: Saj
authors.forename: Agnieszka
authors.initials: A
authors.lastname: Jankowska
authors.forename: Michał
authors.initials: M
authors.lastname: Lewandowski
authors.forename: Hanna
authors.initials: H
authors.lastname: Szwed
authors.forename: Małgorzata
authors.initials: M
authors.lastname: Szperl
authors.forename: Rafał
authors.initials: R
authors.lastname: Płoski
authors.forename: Zofia T
authors.initials: ZT
authors.lastname: Bilińska
mesh_terms: D000328:Adult; D001120:Arginine; D001145:Arrhythmias, Cardiac / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D002311:Cardiomyopathy, Dilated / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D003545:Cysteine; D017147:Defibrillators, Implantable; D005091:Exons / Q000235:genetics; D005838:Genotype; D006801:Humans; D034904:Lamin Type A / Q000235:genetics*; D008297:Male; D009154:Mutation; D010641:Phenotype
chemical_list: C494847:LMNA protein, human; D034904:Lamin Type A; D001120:Arginine; D003545:Cysteine