| Substrate | Further assessment |
| BMPR2 mutation | Echocardiogram yearly; RHC if echocardiogram demonstrates evidence of PAH (high right ventricular systolic pressure estimates or right heart chambers enlargement) |
| 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 |
| Systemic sclerosis | Echocardiogram yearly; RHC if echocardiogram demonstrates evidence of PAH (high right ventricular systolic pressure estimates or right heart chambers enlargement) |
| HIV infection | Echocardiogram if symptoms or signs suggestive of PAH; RHC if echocardiogram demonstrates evidence of PAH (high right ventricular systolic pressure estimates or right heart chambers enlargement) |
| Portal hypertension | Echocardiogram if OLT considered or if symptoms or signs suggestive of PAH; RHC if echocardiogram demonstrates evidence of PAH (high right ventricular systolic pressure estimates or right heart chambers enlargement) |
| Prior appetite suppression use (fenfluramaine) | Echocardiogram only if symptomatic |
| Congenital heart disease with shunt | Echocardiogram and RHC at time of diagnosis; consider repair of defect |
| Recent acute pulmonary embolism | V′/Q′ scintigraphy 3 months after event if symptomatic; consider echocardiogram, RHC and pulmonary angiogram if positive |
| Sickle cell disease | Echocardiogram yearly; RHC if echocardiogram demonstrates evidence of PAH (high right ventricular systolic pressure estimates or right heart chambers enlargement) |
BMPR2: bone morphogenic protein receptor; RHC: right heart catheterisation; OLT: orthotopic liver transplantation; V′/Q′: ventilation/perfusion ratio. Reproduced from [14] with permission from the publisher.