A newborn with SMAD9 genetic mutation presented as primary pulmonary hypertension
10.3760/cma.j.cn113903-20190922-00575
- VernacularTitle:以原发性肺动脉高压为表现的 SMAD9基因突变一例
- Author:
Hongjuan JIN
1
;
Shuyang CHEN
;
Ying HUANG
;
Qingqing LIN
;
Dan HUANG
;
Deyi ZHUANG
Author Information
1. 复旦大学附属儿科医院厦门分院（厦门市儿童医院）新生儿科 厦门市新生儿疾病重点实验室 361000
- From:
Chinese Journal of Perinatal Medicine
2020;23(11):771-773
- CountryChina
- Language:Chinese
-
Abstract:
We report the diagnosis and treatment of a neonate with primary pulmonary hypertension. The full-term baby was delivered vaginally in good condition at birth and admitted eight days after birth due to intermittent cyanosis. The chest X-ray showed a scattered sheet-like shadow in both lungs, and the cardiac color doppler studies suggested patent ductus arteriosus. Following admission, the neonate was given three days of anti-infection and headbox oxygen treatment. Despite subsequent high-frequency ventilator assisted ventilation combined with nitric oxide inhalation and continuous intravenous milrinone and oral sildenafil, the baby's condition worsened, and she died fifteen minutes after withdrawing resuscitation. Genetic studies revealed a chr13:37446983 mutation in SMAD9.
