Leber 遗传性视神经病变患者的心脏疾病。

Cardiac Disorders in Patients With Leber Hereditary Optic Neuropathy.

机构信息

Functional Unit of Ophthalmology, Reference Center for Rares Diseases in Ophthalmology OPHTARA, Hôpital Européen Georges Pompidou, Assistance Publique-Hôpitaux de Paris, Paris, France.

出版信息

J Neuroophthalmol. 2018 Dec;38(4):466-469. doi: 10.1097/WNO.0000000000000623.

DOI:10.1097/WNO.0000000000000623

PMID:29384800

Abstract

BACKGROUND

Cardiac abnormalities have been described in patients with Leber hereditary optic neuropathy (LHON). Some are life-threatening because of the risk of ventricular fibrillation and sudden death. The purpose of our study was to better characterize the cardiac abnormalities in a large patient cohort with LHON.

METHODS

A retrospective study of the electrocardiogram (EKG) results performed on all patients with LHON evaluated at The Reference Center for Rare Diseases in Ophthalmology, Paris, France, from January 2015 to June 2017.

RESULTS

Our series included 73 patients with LHON (9 women/64 men) with a mean age of 30.29 ± 14.48 years. Although only 1 patient had cardiac complaints, cardiac abnormalities were detected in 17 patients (23.2%): 9 patients had an excitation syndrome, 6 had atrioventricular block, and 2 had repolarization abnormalities. All patients harbored mtDNA point mutations 11778 or 3460.

CONCLUSIONS

Cardiac abnormalities occur frequently enough in patients with LHON that a baseline EKG is warranted. However, further studies are needed to determine the true cardiac risk associated with specific LHON mtDNA mutations.

摘要

背景

莱伯遗传性视神经病变（LHON）患者存在心脏异常。一些心脏异常具有生命威胁，因为它们有引发室颤和猝死的风险。我们的研究目的是在 LHON 患者的大样本中更好地描述心脏异常。

方法

对 2015 年 1 月至 2017 年 6 月期间在法国巴黎眼科罕见病参考中心评估的所有 LHON 患者的心电图（EKG）结果进行回顾性研究。

结果

我们的系列包括 73 名 LHON 患者（9 名女性/64 名男性），平均年龄为 30.29 ± 14.48 岁。尽管只有 1 名患者有心脏不适，但在 17 名患者（23.2%）中发现了心脏异常：9 名患者有兴奋综合征，6 名患者有房室传导阻滞，2 名患者有复极异常。所有患者均携带 mtDNA 点突变 11778 或 3460。