A novel BMPR2 mutation with widely disparate heritable pulmonary arterial hypertension clinical phenotype

Ifeoma Oriaku, Mallory N. LeSieur, William C. Nichols, Roberto Barrios, C. Gregory Elliott, Adaani E. Frost

Research output: Contribution to journalArticle

Abstract

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.

Original languageEnglish (US)
JournalPulmonary Circulation
Volume10
Issue number3
DOIs
StatePublished - Jan 1 2020

Keywords

  • BMPR2 mutation
  • heritable pulmonary arterial hypertension
  • pulmonary capillary hemangiomatosis
  • pulmonary veno-occlusive disease

ASJC Scopus subject areas

  • Pulmonary and Respiratory Medicine

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