TGF-β receptor mutations and clinical prognosis in Chinese pediatric patients with idiopathic/hereditary pulmonary arterial hypertension.

The relationship between clinical prognosis and transforming growth factor-β (TGF-β) receptor mutations in Chinese pediatric patients with idiopathic/hereditary pulmonary arterial hypertension (IPAH/HPAH) remains unclear. We retrospectively studied the clinical characteristics and outcomes of pediatric patients with IPAH/HPAH who visited our Hospital from September 2008 to December 2020. One hundred and five pediatric patients with IPAH/HPAH were included, 46 of whom carried TGF-β receptor mutations with a mean age at diagnosis of 82.8 ± 52.7 months, and 67 of them underwent right cardiac catheterization examinations and acute vasodilator testing. The result showed that mutation carriers demonstrated higher pulmonary vascular resistance ( = 0.012), higher right atrial pressure ( = 0.026), and lower cardiac index ( = 0.003). The 1-, 2-, and 3-year survival rates of mutation carriers were 79.4%, 61.5% and 55.6%, respectively, compared with 96.6%, 91.1%, and 85.4% for nonmutation carriers ( = 0.0001). The prognosis of mutation carriers was significantly worse than that of nonmutation carriers. TGF-β receptor gene mutation is an independent risk factor for death ( = 0.049, odd raito = 3.809, 95% confidence interval 1.006-14.429). In conclusion, TGF-β receptor mutation is an important genetic factor for the onset of IPAH/PAH in Chinese pediatric patients. Those who carrying TGF-β receptor mutations have a poor clinical prognosis. Therefore, TGF-β receptor gene screening for pediatric patients with PAH and more aggressive treatment for mutation carriers are recommended.