Genetic testing and consulting of pulmonary arterial hypertension
WANG Xiao-jian
JING Zhi-cheng
Abstract：Pulmonary arterial hypertension(PAH) is closely related to heredity.In recent years,with the disease-causing genes gradually becoming clear,the damand for PAH genetic testing and consulting has rapidly grown.Through genetic testing,we identify the etiology,helping to diagnose,treat,and stratify the disease;by identifying family members of patients with disease-causing mutations,we can provide risk warnings and early warnings without any clinical symptoms,and guide fertility.Genetic testing is gradually integrated into clinical decision-making and practice.This review described the recent progress and application of genetic testing and consulting of PAH in such aspects as clinical significance,target population,implementation methods and interpretation of results.
Keywords：pulmonary arterial hypertensiongenetic testinggenetic consulting
Publication Date：2017-01-01
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：4( 373-375,379 )