Substrate recognition

General screening should always begin with a thorough clinical interview to elicit symptoms consistent with pulmonary hypertension, and a thorough physical examination for physical findings consistent with the diagnosis.

When the history and physical examination are inconclusive, further diagnostic testing may be appropriate. Currently, a transthoracic echocardiogram is the preferred screening test for the presence of pulmonary hypertension (see section on echocardiography).

Certain medical conditions and genetic susceptibilities are recognized as predisposing a person to develop PAH. The new DANA POINT clinical classification of PH may represent a pathway allowing screening in specific subgroups of patients or appropriate patient populations. This may lead to the early identification of pulmonary hypertension in asymptomatic or minimally symptomatic individuals, or in symptomatic patients in whom the diagnosis was not previously suspected, allowing early initiation of treatments at a time when dynamic or reversible pathogenic mechanisms are present, increasing the likelihood of a successful treatment outcome. Consensus screening guidelines according to substrate recognition are displayed in the table below.

Substrate Further Assessment Rationale
BMPR2 mutation Echocardiogram yearly; RHC if echocardioram demonstrates Early detection of PAH; 20% chance of developing PAH
1st degree relative of patient with BMPR2 mutation or within pedigree of 2 or more patiens with a diagnosis of PAH Genetic counselling and recommendation for BMPR2 genotyping; proceed as above if positive Autosomal dominant transmission
Systemic scelerosis Echocardiogram yearly; RHC if echocardiogram demonstrates evidence pf PAH (high right ventricular systolic pressure or right heart chamber enlargement) About 8% (by RHC) - 27% (by echocardiogram screening) prevalence of PAH in systemic sclerosis (27,78)
HIV Infection Echocardiogram if symptoms or signs suggestive of PAH; RHC if echo demonstrates evidence of PAH (high right ventricular systolic pressure or right heart chamber enlargement) 0.5% prevalence of PAH
Portal hypertension Echocardiogram if OLT considered; RHC if echocardiogram demonstrates evidence of PAH (high right ventricular systolic pressure or right heart chamber enlargement) 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 approximately 0.005% if agent used greater than 3 months
congenital heart disease with shunt Echocardiogram and RHC at time of diagnosis; consider repair of defect if significant L-R shunt present High probability of PAH developing in unrepaired shunt (Eisenmenger syndrome)
recent acute pulmonary embolism Ventilation-perfusion (V/Q) scintigraphy 3 months after event if symptomatic; pulmonary angiogram if positive 3% risk of chronic thromboembolic PH; negative VQ scan excludes chronic thromboembolism
sickle cell disease Echocardiogram yearly, RHC if echocardiogram demonstrates evidence of PAH (high right ventricular systolic pressure or right heart chamber enlargement) Increased mortality if PH present, early detection pf PH, 30% develop PH, about 10% develop PAH


BMPR2 indicates bone morphogenic protein receptor 2; HIV, human immunodeficiency virus; L-R, left to right; OLT, orthotopic live transplantation; PAH, pulmonary arterial hypertension; and RHC, right heart catheterization.

 
Ref.: ACCF/AHA 2009 Expert Consensus Document on Pulmonary Hypertension. JACC 2009;53;1573-1619