以反复心律失常为主要表现的新生儿Williams-Beuren综合征1例2

(8)胃肠异常：婴儿期吸吮力弱、吞咽小协调、易呛、易呕吐、喂食困难、易便秘及 经常性腹绞痛。腹绞痛可能持续j三婴儿4～10个月时，才逐渐恢复正常。

WBS在新生儿期罕见，现仅有合并主动脉缩窄、声门下囊肿、凝血功能障碍各1例的文献报道[6-8],国内外尚无以心律失 常为主要表现的文献报道。本例患儿在新生儿期发病，发病表现为频发恶性心律失常，未发现特殊面容及高钙血症，仅凭心脏彩超及心脏CT发现左右肺动脉狭窄、主动脉瓣上狭窄，考虑存在WBS可能，行基因微阵列检查得以证实。患者反复发作的恶性心律失常不能被抗心律失常药物控制，可能与心脏结构畸形影响心脏传导系统有关。对于发现主动脉瓣上狭窄的新生儿，均建议行基因微阵列检测，明确诊断，可予长期追踪。 WBS为常染色体显性遗传病，大部分为偶发，属于自体显 性遗传[9]，若父母有一方携带缺损基因，则每一胎皆有50%的 发病率。在曾生育WBS患儿的家庭，建议父母及胎儿行此病基 因检测，以减少或杜绝此疾病发生。

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参考文献

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