Genotype–phenotype correlation of LMNA variants involving the Arg541 residue: a case report with multimodality imaging and literature review. (15th July 2020)

• Record Type: Journal Article
• Authors: Di Marco, Andrea; Ruiz‐Cueto, María; Salazar‐Mendiguchía, Joel; Claver, Eduard; Roura, Gerard; Dallaglio, Paolo Domenico; Anguera, Ignasi
• Is Part Of: ESC heart failure. Volume 7:Number 5(2020)
• Page Start: 3169
• Page End: 3173
• Publication Date: 2020-07-15
• Subjects: Familiar dilated cardiomyopathy -- Lamin A/C variants -- Ventricular Tachycardia -- Ventricular tachycardia ablation -- Late gadolinium enhancement; Heart failure -- Periodicals; 616.129005
• DOI: 10.1002/ehf2.12776
• Languages: English
• ISSNs: 2055-5822

Abstract

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, 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.