Genotype-phenotype correlation of LMNA variants involving the Arg541 residue: a case report with multimodality imaging and literature review.

Autor: Di Marco A; Department of Cardiology, Hospital Universitari de Bellvitge, Barcelona, Spain., Ruiz-Cueto M; Department of Cardiology, Hospital Universitari de Bellvitge, Barcelona, Spain., Salazar-Mendiguchía J; Department of Cardiology, Hospital Universitari de Bellvitge, Barcelona, Spain., Claver E; Department of Cardiology, Hospital Universitari de Bellvitge, Barcelona, Spain., Roura G; Department of Cardiology, Hospital Universitari de Bellvitge, Barcelona, Spain., Dallaglio PD; Department of Cardiology, Hospital Universitari de Bellvitge, Barcelona, Spain., Anguera I; Department of Cardiology, Hospital Universitari de Bellvitge, Barcelona, Spain.
Jazyk: angličtina
Zdroj: ESC heart failure [ESC Heart Fail] 2020 Oct; Vol. 7 (5), pp. 3169-3173. Date of Electronic Publication: 2020 Jul 15.
DOI: 10.1002/ehf2.12776
Abstrakt: 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.
(© 2020 The Authors. ESC Heart Failure published by John Wiley & Sons Ltd on behalf of the European Society of Cardiology.)
Databáze: MEDLINE
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