Open AccessGenotype–phenotype correlation of LMNA variants involving the Arg541 residue: a case report with multimodality imaging and literature review
Author(s) -
Di Marco Andrea,
RuizCueto María,
SalazarMendiguchía Joel,
Claver Eduard,
Roura Gerard,
Dallaglio Paolo Domenico,
Anguera Ignasi
Publication year - 2020
Publication title -
esc heart failure
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.787
H-Index - 25
ISSN - 2055-5822
DOI - 10.1002/ehf2.12776
Subject(s) - medicine , lmna , magnetic resonance imaging , cardiology , cardiac magnetic resonance imaging , ventricular tachycardia , phenotype , genotype , cardiac magnetic resonance , cardiomyopathy , ablation , dilated cardiomyopathy , heart failure , radiology , lamin , genetics , nucleus , psychiatry , biology , gene
We present a case of atypical LMNA cardiomyopathy associated with the pathogenic variant p.Arg541Ser. The patient had early‐onset severe ventricular arrhythmias but atrioventricular conduction was normal. Segmental motion abnormalities and a large transmural scar, mainly apical and lateral, were found at cardiac magnetic resonance, corresponding to areas of severe wall thinning at computed tomography and of low voltages at electroanatomic mapping. Ventricular tachycardia ablation was successful in controlling ventricular arrhythmias. Few other cases described patients with pathogenic variants in the Arg541 residue, and they displayed similar atypical features, suggesting a genotype–phenotype correlation which may have specific prognostic and therapeutic implications.