This is a genotype with recommended actions if clinically confirmed. In brief:
- Pulmonary arterial hypertension (PAH), a subset of pulmonary hypertension (PH), is characterized by resistance to blood flow through the lungs. Higher right ventricle pressure may eventually progress to heart failure.
- The symptoms of PAH are nonspecific and develop slowly (and are often confused with signs of aging or being in poor shape). The mean age of diagnosis ranges from 36 to 65 years, but also note that penetrance is low (though higher in females than males).
- Current therapy improves clinical function, but has a modest effect on survival.
- Individuals at risk for PAH should undergo aggressive treatment for any existing conditions that contribute to the development or worsening of PH (e.g., sleep apnea and systemic hypertension).
- Recommendations for screening vary from annual echocardiography to ongoing clinical monitoring for the development of symptoms that would signal disease progression and warrant initiation of pharmacotherapy.
- Those at risk for PAH should probably consider avoiding the following: appetite-suppressing drugs, cocaine, amphetamines and related vasoconstrictors, oral contraceptives and hormone replacement therapy.
- First-degree relatives at risk for PAH should undergo genetic counseling and genotyping as well as screening.
The full ClinGen Actionability report about primary pulmonary hypertension 1 can be found here.
Genetic counseling may be available to you through your health-care network. In the US, genetic counselors may be found via this webpage of the National Society of Genetic Counselors.