Xinyu Zhang, Chen Zhang, Qiangqiang, Li, Hong Gu
Beijing Anzhen Hospital and Capital Medical University.
China
Pulmonary Circulation
Pulm Circ 2022; 12:
DOI: 10.1002/pul2.12076
Abstract
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 (p = 0.012), higher right atrial pressure (p = 0.026), and lower cardiac index (p = 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 (p = 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 (p = 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.
Category
Genetic Factors Associated with Pulmonary Vascular Disease
Class I. Idiopathic Pulmonary Hypertension
Class I. Heritable Pulmonary Hypertension
Diagnostic Testing for Pulmonary Vascular Disease. Invasive Testing
Age Focus: Pediatric Pulmonary Vascular Disease
Fresh or Filed Publication: Filed (PHiled). Greater than 1-2 years since publication
Article Access
Free PDF File or Full Text Article Available Through PubMed or DOI: Yes