Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz
Gewählte Publikation:
SHR Neuro Krebs Kardio Lipid Stoffw Microb
Foris, V; Brcic, L; Dorfmüller, P; Eichstaedt, CA; Grünig, E; Douschan, P; John, T; Zeder, K; Fuchsjäger, M; Kneidinger, N; Kovacs, G; Olschewski, H.
Late Onset Pulmonary Arterial Hypertension Associated With Features of Pulmonary Veno-Occlusive Disease and Rare Heterozygous Variants of KDR and EIF2AK4.
Pulm Circ. 2025; 15(4): e70179
Doi: 10.1002/pul2.70179
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- Führende Autor*innen der Med Uni Graz
- Foris Vasile
- Co-Autor*innen der Med Uni Graz
- Douschan Philipp
- Fuchsjäger Michael
- John Teresa
- Kneidinger Nikolaus
- Kovacs Gabor
- Olschewski Horst
- Zeder Katarina Eleonora
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- Abstract:
- 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.