A newborn with SMAD9 genetic mutation presented as primary pulmonary hypertension / 中华围产医学杂志

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.