The keys to diagnosis are a detailed history and thorough clinical examination of the patient. The affected person should be transferred to a specialist centre for clarification. Only those patients in whom the risk of developing PH is substantially raised should undergo screening. This includes patients with a known BMPR II mutation, scleroderma and patients with portal hypertension who are being assessed for a liver transplant.

International specialist associations differentiate between 4 diagnostic steps: suspicion, detection, categorisation in the Dana Point classification system, evaluation of the severity. Functional classification is undertaken on the basis of NYHA Classes I-IV (Table 2). Patients in NYHA classes I or II at the time of diagnosis have a mean survival of 6 years in comparison with a mean survival of 2.5 years and 6 months respectively in NYHA classes III and IV where the disease is already at an advanced stage. Another option for assessing severity is provided by the 6-minute walk test (6-minute walk distance, 6MWD), in which the distance covered by a patient in 6 minutes is measured. The 6MWD has good prognostic value and is therefore used as a primary endpoint in many studies. It also constitutes a good parameter for progress during treatment. The maximum oxygen uptake (peak VO2) measured during a bicycle ergometer test is also an independent predictor of mortality [19].

Clinical Symptoms

Symptoms usually develop gradually and only manifest at a loss of more than 60% of pulmonary vasculature. Although dyspnoea (particularly breathlessness caused by activity) is a common early symptom, it is not a cardinal symptom. Fatigue, reduced performance, chest pain, recurring syncope on activity and after attacks of coughing, haemoptysis (which may occur with all […]


Tachycardia and left parasternal or epigastric heaves of the right ventricle are observed. The second heart sound is emphasised and a pansystolic heart murmur can be heard, suggesting tricuspid insufficiency. Pulmonary insufficiency can occasionally be heard on auscultation. In the advanced stage, oedema of the legs, ascites, distention of the veins of the neck, hepatomegaly […]

Laboratory tests

Blood gas analysis is normal in the early stages, later pO2 is reduced, pCO2 increased, later reduced and HCO3 increased. The red blood count in advanced stages of PH secondary to congenital heart disease or hypoxaemia presents polycythaemia and haematocrit > 50%.


ECG has specificity of 70% and sensitivity of 55% in the diagnosis of PH [23]. The ECG signs of right ventricular dysfunction are right bundle branch block, rotation of the electrical cardiac axis to the right, right heart hypertrophy (R>S in V1), right ventricular repolarisation dysfunction (“right ventricular strain” RVS) and a “P pulmonale” indicating […]

Chest X-Ray

Typical findings involve abrupt changes in diameter in pulmonary blood vessels with dilated central pulmonary arteries and a loss of peripheral blood vessels. Enlargement of the right atrium and/or ventricle can also be seen. A normal chest x-ray does not rule out PH.

Computed Tomography

A spiral CT investigation with intravenously administered contrast medium is an informative option for diagnosis. CT is particularly suitable for assessment of the lung parenchyma and the vessels around the heart.

Pulmonary Angiography

For patients with CTEPH, surgical thrombendarterectomy is a possible cure. Pulmonary angiography is a valuable method for planning the operation. It provides accurate information about the location of intraluminal filling defects, stenosis and occlusions.

Right Heart Catheter and Haemodynamic Testing

A diagnosis of PH can only be made with a positive right heart catheterisation finding. Measurement of the pulmonary vascular resistance (PVR), cardiac index (CI) and mean right atrial pressure (mRAP) allows statements to be made regarding the severity and hence the prognosis for the patient. On the basis of current data, the CI, mRAP […]