症例シリーズ。LMNA関連拡張型心筋症は、網膜壁アキネシスと経膜性後期ガドリニウム増強を呈する

Case series: LMNA-related dilated cardiomyopathy presents with reginal wall akinesis and transmural late gadolinium enhancement.

• Shuai Wang
• Daoquan Peng

抄録

LMNA変異関連拡張型心筋症の患者は、伝導異常、心室頻脈性不整脈、軽度の収縮機能障害を伴う心臓突然死のリスクが高いことが特徴であり、多くの場合、心室拡張を伴わない。ここでは、LMNA変異を有する3例の無関係な症例を紹介したが、心血管系磁気共鳴（CMR）上では、顕著なLVの拡張、有意な駆出率の減少、側壁のアキネシス、および側壁の優位性を伴う膜貫通性亢進を示す異常な心臓表現型を示した。これら3人の患者は、Lamin A/Cの尾部領域の同じ位置（p.R541）に病的LMNA変異（c.1621C>T、p.R541Cおよびc.1621G>A、p.R541H）が確認された。

Patients with LMNA mutation-related heart disease are characterized by conduction abnormalities, ventricular tachyarrhythmias, and high risk of sudden cardiac death with mildly impaired systolic function, often without chamber dilation. Here, we presented three unrelated cases with LMNA mutation exhibited unusual cardiac phenotype of marked LV dilation, significant reduced ejection fraction with reginal wall akinesis, and transmural enhancement with a predilection of lateral wall on cardiovascular magnetic resonance (CMR). These three patients were found to have confirmed pathological LMNA mutations (c.1621C > T, p.R541C and c.1621G > A, p.R541H) at the same location (p.R541) in the tail region of lamin A/C.

© 2020 The Authors. ESC Heart Failure published by John Wiley & Sons Ltd on behalf of the European Society of Cardiology.