Late Onset Pulmonary Arterial Hypertension Associated With Features of Pulmonary Veno-Occlusive Disease and Rare Heterozygous Variants of KDR and EIF2AK4

The natural history of late-onset pulmonary arterial hypertension (PAH) with features of venous/capillary involvement and the associations with rare variants in PAH genes are not well known. We report a case of a female patient who developed severe PAH at the age of 70. Two years before, lung histology was obtained showing features of pulmonary veno-occlusive disease. Genetic testing revealed that the patient was harbouring two rare genetic variants in the KDR and EIF2AK4 genes. She received a triple combination therapy alongside diuretics and survived remarkable 8 years after the PAH diagnosis.