Pulmonary arterial hypertension

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Inclusion criteria

  • Unexplained pulmonary arterial hypertension (PAH) or pulmonary veno-occlusive disease/pulmonary capillary haemangiomatosis*

The diagnosis of PAH/PVOD is defined by the presence of pre-capillary pulmonary hypertension. This is established at the time of right heart catheterisation by an increase in mean pulmonary arterial pressure (PAPm) greater than 25 mmHg at rest, by a pulmonary artery wedge pressure (PAWP) less than 15 mmHg and a pulmonary vascular resistance (PVR) greater than 3 Wood units (WU) in the absence of other causes of pre-capillary pulmonary hypertension, such as that due to lung diseases, embolic disease, or other rare diseases (see exclusion criteria).

Exclusion criteria

  • Left heart disease;
  • Lung disease/hypoxaemia;
  • other disease with likely causative role (including myeloproliferative disorders, sarcoidosis, vasculitis, NF1, HIV, sickle cell disease)

Prior genetic testing guidance

– Results should have been reviewed for all genetic tests undertaken, including disease-relevant genes in exome sequencing data. The patient is not eligible if they have a molecular diagnosis for their condition.

– Genetic testing should continue according to routine local practice for this phenotype regardless of recruitment to the project; results of these tests must be submitted via the ‘Genetic investigations’ section of the data capture tool to allow comparison of WGS with current standard testing.

PLEASE NOTE: The sensitivity of WGS compared to current diagnostic genetic testing has not yet been established. It is therefore important that tests which are clinically indicated under local standard practice continue to be carried out.

Prior genetic testing genes

Testing of the following genes should be carried out PRIOR TO RECRUITMENT where this is in line with current local practice:


Closing statement

These requirements will be kept under continual review during the main programme and may be subject to change.

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