Journal
PULMONARY CIRCULATION
Volume 10, Issue 3, Pages -Publisher
SAGE PUBLICATIONS INC
DOI: 10.1177/2045894020931315
Keywords
heritable pulmonary arterial hypertension; pulmonary veno-occlusive disease; pulmonary capillary hemangiomatosis; BMPR2 mutation
Funding
- NIH
- NHLBI grant [5R24HL105333]
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Mutations in the gene encoding bone morphogenetic protein receptor type II (BMPR2) have been associated with heritable pulmonary arterial hypertension (HPAH), whereas mutations in the gene encoding eukaryotic translation initiation factor 2 alpha kinase 4 (EIF2AK4) are associated with heritable pulmonary veno-occlusive disease/pulmonary capillary hemangiomatosis (HPVOD/PCH). We describe two unrelated patients found to carry the same hitherto unreported pathogenic BMPR2 mutation; one of whom presented with typical pulmonary arterial hypertension, whereas the second patient presented with aggressive disease and characteristic clinical features of PVOD/PCH. These two clinically divergent cases representative of the same novel pathogenic mutation exemplify the variable phenotype of HPAH and the variable involvement of venules and capillaries in the pathology of the pulmonary vascular bed in pulmonary arterial hypertension.
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