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.
METHODS: 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.
CONCLUSIONS: Cilostazol could be a treatment option for recurrent transient bradycardia attacks associated with ATP1A3 gene abnormalities and polymicrogyria.
METHODS: 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.
CONCLUSIONS: Cilostazol could be a treatment option for recurrent transient bradycardia attacks associated with ATP1A3 gene abnormalities and polymicrogyria.
摘要：
背景：一些ATP1A3变异型相关的多微回旋症患者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。
方法：患者出生后12小时开始出现局灶性运动性癫痫发作，显示双侧弥漫性多微颗粒。患者从15天起还经历了短暂性心动过缓(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脑电图或脑电图异常。最初，攻击每天都发生在集群中。它们后来频率降低了，每月发生一次。短暂性心动过缓发作和多微细胞反复发作表明可能的ATP1A3基因异常，遗传检测揭示了一种新的杂合ATP1A3变体（NM_152296：exon22：c.2977_2982del：p。（Glu993_Ile994del），这是在病人的父母没有发现。西洛他唑在3个月大时用于复发性短暂性心动过缓发作。西洛他唑可显着缩短心动过缓发作的持续时间，并延长发作之间的间隔。西洛他唑还有效治疗短暂性有症状的心动过缓。
结论：西洛他唑可能是与ATP1A3基因异常和多微回旋相关的复发性短暂性心动过缓发作的治疗选择。
方法：患者出生后12小时开始出现局灶性运动性癫痫发作，显示双侧弥漫性多微颗粒。患者从15天起还经历了短暂性心动过缓(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脑电图或脑电图异常。最初，攻击每天都发生在集群中。它们后来频率降低了，每月发生一次。短暂性心动过缓发作和多微细胞反复发作表明可能的ATP1A3基因异常，遗传检测揭示了一种新的杂合ATP1A3变体（NM_152296：exon22：c.2977_2982del：p。（Glu993_Ile994del），这是在病人的父母没有发现。西洛他唑在3个月大时用于复发性短暂性心动过缓发作。西洛他唑可显着缩短心动过缓发作的持续时间，并延长发作之间的间隔。西洛他唑还有效治疗短暂性有症状的心动过缓。
结论：西洛他唑可能是与ATP1A3基因异常和多微回旋相关的复发性短暂性心动过缓发作的治疗选择。
