Arg541残基を含むLMNAバリアントの遺伝子型-フェノタイプ相関：マルチモダリティイメージングと文献レビューを含む症例報告

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

• Andrea Di Marco
• María Ruiz-Cueto
• Joel Salazar-Mendiguchía
• Eduard Claver
• Gerard Roura
• Paolo Domenico Dallaglio
• Ignasi Anguera

抄録

早期に重度の心室性不整脈を発症したが，心房室伝導は正常であった．心臓磁気共鳴検査では分節運動異常と大きな硬膜貫通痕（主に先端側と外側）が認められ，コンピュータ断層撮影では重度の壁の菲薄化，電気解剖学的マッピングでは低電圧に対応していた．心室頻拍アブレーションは心室性不整脈のコントロールに成功した。他の症例では、Arg541残基に病原性の変異を持つ患者はほとんどおらず、同様の非定型的な特徴を示していた。

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.