Cilostazol treats transient heart failure caused by ATP1A3 variant-associated polymicrogyria

IF 1.4 4区医学 Q4 CLINICAL NEUROLOGY

Brain & Development Pub Date : 2023-09-29 DOI:10.1016/j.braindev.2023.09.002

Naohiro Yamamoto , Ichiro Kuki , Kazuki Shimizu , Ayako Ohgitani , Naoki Yamada , Mitsuhiro Fujino , Sayaka Yoshida

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引用次数: 0

Abstract

Background

Some patients with ATP1A3 variant-associated polymicrogyria have recurrent transient heart failure. However, effective treatment for the transient cardiac condition remains to be elucidated.

Case report

The patient started experiencing focal motor onset seizures in 12 h after birth, revealing bilateral diffuse polymicrogyria. The patient also experienced transient bradycardia (sinus bradycardia) attacks from 15 days old. Echocardiography revealed a reduced ejection fraction; however, no obvious electrocorticogram or electroencephalogram abnormalities were observed during the attacks. Initially, the attacks occurred in clusters daily. They later decreased in frequency, occurring at monthly intervals. Repeated episodes of transient bradycardia attacks and polymicrogyria indicated possible ATP1A3 gene abnormality and genetic testing revealed a novel heterozygous ATP1A3 variant (NM_152296: exon22:c.2977_2982del:p.(Glu993_Ile994del)), which was not found in the patient’s parents. Cilostazol was administered at 3 months old for recurrent transient bradycardia attacks. Cilostazol significantly shortened the duration of bradycardia episodes and prolonged the interval between attacks. Cilostazol also effectively treats transient symptomatic bradycardia.

Conclusion

Cilostazol could be a treatment option for recurrent transient bradycardia attacks associated with ATP1A3 gene abnormalities and polymicrogyria.

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西洛他唑治疗由ATP1A3变体相关的多发性脑脊髓炎引起的短暂性心力衰竭。

背景：一些ATP1A3变异体相关多发性脑脊髓炎患者有复发性短暂性心力衰竭。然而，对短暂性心脏病的有效治疗仍有待阐明。病例报告：患者在出生后12小时开始出现局灶性运动发作，显示双侧弥漫性多发性脑脊髓炎。患者从15天起也经历过短暂性心动过缓（窦性心动过慢）发作。超声心动图显示射血分数降低；然而，在发作期间没有观察到明显的皮质电图或脑电图异常。最初，袭击每天都会集群发生。后来，它们的频率降低了，每月都会发生一次。反复发作的短暂性心动过缓发作和多发性脑脊髓炎表明可能存在ATP1A3基因异常，基因检测显示了一种新的杂合ATP1A3变体（NM_152296:外显子22:c.2977_2982del:p.（Glu993_Ile994del）），在患者父母中未发现。西洛他唑在3个月大时用于治疗复发性短暂性心动过缓发作。西洛他唑显著缩短了心动过缓发作的持续时间，延长了发作间隔。西洛他唑也能有效治疗短暂症状性心动过缓。结论：西洛他唑可作为治疗复发性短暂性心动过缓伴ATP1A3基因异常和多发性脑脊髓炎的一种选择。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Brain & Development 医学-临床神经学

CiteScore

3.60

自引率

0.00%

发文量

153

审稿时长

50 days

期刊介绍： Brain and Development (ISSN 0387-7604) is the Official Journal of the Japanese Society of Child Neurology, and is aimed to promote clinical child neurology and developmental neuroscience. The journal is devoted to publishing Review Articles, Full Length Original Papers, Case Reports and Letters to the Editor in the field of Child Neurology and related sciences. Proceedings of meetings, and professional announcements will be published at the Editor''s discretion. Letters concerning articles published in Brain and Development and other relevant issues are also welcome.