Early onset severe pulmonary arterial hypertension with 'two-hit' digenic mutations in both BMPR2 and KCNA5 genes

Int J Cardiol. 2014 Dec 20;177(3):e167-9. doi: 10.1016/j.ijcard.2014.08.124. Epub 2014 Aug 28.
No abstract available

Keywords: BMPR2; Frameshift mutation; KCNA5; Pulmonary arterial hypertension.

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adolescent
  • Adult
  • Bone Morphogenetic Protein Receptors, Type II / genetics*
  • Female
  • Humans
  • Hypertension, Pulmonary / diagnosis*
  • Hypertension, Pulmonary / genetics*
  • Hypertension, Pulmonary / physiopathology
  • Kv1.5 Potassium Channel / genetics*
  • Male
  • Mutation / genetics*
  • Pedigree
  • Severity of Illness Index*

Substances

  • KCNA5 protein, human
  • Kv1.5 Potassium Channel
  • BMPR2 protein, human
  • Bone Morphogenetic Protein Receptors, Type II