Pulmonary arterial hypertension is a kind of heart and lung
vascular disease with low incidence and poor prognosis. Genetic variants are the important factors of
pulmonary arterial hypertension. The mutations of
activin receptor-like kinase-1 (ACVRL1) could cause pulmonary arteriole obstruction and occlusion in
pulmonary arterial hypertension patients. The ACVRL1 gene mutation and clinical characteristics of Chinese idiopathic or hereditary
pulmonary hypertension (IPAH/
HPAH) patients are still unclear. This study aimed to retrospectively study the mutation characteristics of ACVRL1 gene in Chinese IPAH/
HPAH patients and its effect on clinical prognosis. We analyzed the clinical, functional, hemodynamic and mutation characteristics of 12 IPAH/
HPAH patients with ACVRL1 mutations and compared with 94 IPAH/
HPAH patients (27 patients carried
bone morphogenetic protein receptor type 2 (BMPR2) mutations and 67 without mutations). All ACVRL1 mutations of 12 patients were single
nucleotide missense mutations. The ratio of male to female in 12 patients was 1:1. The diagnosis age of ACVRL1 mutation patients was younger than that of BMPR2 mutation patients (13.6 ± 11.3 years vs. 16.0 ± 12.9 years) but higher than that of patients without mutations (13.6 ± 11.3 years vs. 8.8 ± 8.5 years, p = 0.006). IPAH/
HPAH patients with ACVRL1 mutation have rapid disease progresses, high overall mortality rate (approximately 50%) and no response to the acute pulmonary vasodilation test. In conclusion, this is the first study to analyze the ACVRL1 gene mutation and clinical characteristics of Chinese IPAH/
HPAH patients. It is beneficial to screen ACVRL1 gene mutation for IPAH/
HPAH patients to facilitate genetic counseling and early prevention and treatment.