A Case of Endocardial Fibroelastosis Associated with RPL3L Gene Mutation

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关键词: 新生儿心内膜弹力纤维增生症新生儿肺炎高通量测序(NGS) Neonate Endocardial Fibroelastosis Neonatal Pneumonia High-Throughput Sequencing (NGS)

摘要: A 28-day-old newborn was admitted to the hospital due to “crying, refusing to breastfeed for half a day, and cyanosis for nearly 30 minutes”. After admission, the diagnosis was neonatal pneumonia, and the infant received anti-infection and oxygen therapy, which initially improved the condition. On the third day of admission, the infant suddenly showed a decrease in blood oxygen saturation. A cardiac ultrasound examination was performed, and endocardial fibroelastosis was suspected. The infant r...更多; A 28-day-old newborn was admitted to the hospital due to “crying, refusing to breastfeed for half a day, and cyanosis for nearly 30 minutes”. After admission, the diagnosis was neonatal pneumonia, and the infant received anti-infection and oxygen therapy, which initially improved the condition. On the third day of admission, the infant suddenly showed a decrease in blood oxygen saturation. A cardiac ultrasound examination was performed, and endocardial fibroelastosis was suspected. The infant received cardiac support, diuretics, and mechanical ventilation as symptomatic treatment, and the condition was eventually brought under control. Subsequent communication with the parents revealed a compound heterozygous mutation in the RPL3L gene and c.550C > T . Currently, the infant is receiving cardiac support and other symptomatic treatments, and follow-up shows significantly lagging growth and development compared to its twin brother.收起

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