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.

中文翻译：

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西洛他唑治疗由 ATP1A3 变异相关的多小脑回引起的短暂性心力衰竭

 背景

一些 ATP1A3 变异相关的多小脑回患者患有复发性短暂性心力衰竭。然而，短暂性心脏病的有效治疗仍有待阐明。

 案例报告

患者在出生后 12 小时开始出现局灶性运动发作，表现为双侧弥漫性多小脑回。该患者从 15 天大起还经历过短暂性心动过缓（窦性心动过缓）发作。超声心动图显示射血分数降低；然而，发作期间未观察到明显的皮质电图或脑电图异常。最初，攻击每天都会成群发生。后来它们的频率降低，每隔一个月发生一次。反复发作的短暂性心动过缓发作和多小脑回表明可能存在 ATP1A3 基因异常，基因检测发现一种新的杂合 ATP1A3 变异（NM_152296: exon22:c.2977_2982del:p.(Glu993_Ile994del)），该变异在患者父母中未发现。 3个月大时给予西洛他唑治疗反复发作的短暂性心动过缓。西洛他唑显着缩短心动过缓发作的持续时间并延长发作间隔。西洛他唑还可以有效治疗短暂性症状性心动过缓。

 结论

西洛他唑可能是治疗与 ATP1A3 基因异常和多小脑回相关的反复短暂性心动过缓发作的一种治疗选择。