Open AccessA novel BMPR2 mutation with widely disparate heritable pulmonary arterial hypertension clinical phenotype
Author(s) -
Oriaku Ifeoma,
LeSieur Mallory N.,
Nichols William C.,
Barrios Roberto,
Elliott C. Gregory,
Frost Adaani
Publication year - 2020
Publication title -
pulmonary circulation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.791
H-Index - 40
ISSN - 2045-8940
DOI - 10.1177/2045894020931315
Subject(s) - bmpr2 , medicine , pulmonary hypertension , acvrl1 , phenotype , mutation , bone morphogenetic protein receptor , gene , disease , pathology , cardiology , genetics , bone morphogenetic protein , endoglin , biology , stem cell , cd34
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.