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

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

Abstract 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,...

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Bibliographic Details
Main Authors: Andrea Di Marco, María Ruiz‐Cueto, Joel Salazar‐Mendiguchía, Eduard Claver, Gerard Roura, Paolo Domenico Dallaglio, Ignasi Anguera
Format: Article
Language:English
Published: Wiley 2020-10-01
Series:ESC Heart Failure
Subjects:
Familiar dilated cardiomyopathy
Lamin A/C variants
Ventricular Tachycardia
Ventricular tachycardia ablation
Late gadolinium enhancement
Online Access:https://doi.org/10.1002/ehf2.12776

Internet

https://doi.org/10.1002/ehf2.12776

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