Abstract
Pulmonary arterial hypertension (PAH) leads to increased pulmonary vascular pressures, increased pulmonary vascular resistance, and right ventricular failure. Genetic testing and counseling for PAH provide valuable information regarding disease prognosis, treatment, and management options. Further, identifying the precise genetic cause for disease facilitates the identification of at-risk family members who require ongoing surveillance and allows reproductive risk assessments. The diagnostic yield of genetic testing in well-characterized clinical cohorts of patients with idiopathic PAH has been reported to be in the range of 10% to 30%, depending on the study and inclusion criteria.
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