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首例日本多发性弹力纤维瘤病患者缩窄性心包炎行全心包切除术成功。

Successful Total Pericardiectomy for Constrictive Pericarditis in the First Series of Japanese Patients With Mulibrey Nanism.

机构信息

Department of Pediatrics, Keio University, School of Medicine, Tokyo, Japan.

Department of Neonatology, Saitama Municipal Hospital, Saitama, Japan.

出版信息

Can J Cardiol. 2018 May;34(5):690.e5-690.e8. doi: 10.1016/j.cjca.2018.02.008. Epub 2018 Feb 13.

Abstract

Patients with Mulibrey nanism (MUL) present with growth failure and multiple organ manifestations, and MUL is caused by mutations in TRIM37. In this article, we report on the first case series of Japanese patients with MUL who developed congestive heart failure due to constrictive pericarditis. Our case series suggests that early diagnosis and total pericardiectomy before adherence of the pericardium might provide clinical benefit and better prognosis for MUL.

摘要

多发性脂肪营养不良(MUL)患者表现为生长发育迟缓及多器官受累,MUL 是由 TRIM37 基因突变引起的。本文报道了首例日本 MUL 患者因缩窄性心包炎并发充血性心力衰竭的病例系列。我们的病例系列提示,早期诊断和在心包粘连之前进行全心包切除术可能为 MUL 患者带来临床获益和更好的预后。

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