| Substrate | Further assessment | Rationale |
| BMPR2 mutation | Yearly echocardiogram; RHC if echocardiogram demonstrates evidence of PAH# | Early detection of PAH; 20% chance of developing PAH |
| First degree relative of patient with BMPR2 mutation or within pedigree of two or more patients with a diagnosis of PAH | Genetic counselling and recommendation for BMPR2 genotyping; proceed as above if positive | Autosomal dominant transmission |
| Systemic sclerosis | Yearly echocardiogram; RHC if echocardiogram demonstrates evidence of PAH# | Approximately 8–12% (by RHC) prevalence of PAH in systemic sclerosis |
| HIV infection | Echocardiogram if symptoms or signs suggestive of PAH; RHC if echocardiogram demonstrates evidence of PAH# | 0.5% prevalence of PAH |
| Portal hypertension | Echocardiogram if OLT considered; RHC if echocardiogram demonstrates evidence of PAH# | 4% prevalence of PAH in candidates for OLT; PAH is predictive of poor OLT outcome |
| Prior appetite suppressant use (fenfluramine) | Echocardiogram only if symptomatic | Incidence of PAH is ∼0.005% if agent used for >3 months |
| Congenital heart disease with shunt | Echocardiogram and RHC at time of diagnosis; consider repair of defect if significant left-to-right shunt present | High probability of PAH developing in unrepaired shunt (Eisenmenger syndrome) |
| Recent acute pulmonary embolism | Ventilation/perfusion scintigraphy 3 months after event if symptomatic; pulmonary angiogram if positive | 3% risk of chronic thromboembolic PH; negative ventilation/perfusion scan excludes chronic thromboembolism |
| Sickle cell disease | Yearly echocardiogram; RHC if echocardiogram demonstrates evidence of PAH# | Increased mortality if PH present, early detection of PH, 30% develop PH or ∼10% develop PAH |
BMPR2: bone morphogenetic protein receptor 2; PAH: pulmonary arterial hypertension; RHC: right heart catheterisation; OLT: orthotopic liver transplantation; PH: pulmonary hypertension. #: high right ventricular systolic pressure or right heart chamber enlargement. Reproduced from [16] with permission from the publisher.