Coexistence of pulmonary arterial hypertension and straight back syndrome in a patient with a novel BMPR2 variant affecting cytoplasmic tail domain

Eur J Med Res. 2024 Apr 1;29(1):209. doi: 10.1186/s40001-024-01810-x.

Abstract

Background: Pathologic variants in the bone morphogenetic protein receptor-2 (BMPR2) gene cause a pulmonary arterial hypertension phenotype in an autosomal-dominant pattern with incomplete penetrance. Straight back syndrome is one of the causes of pseudo-heart diseases. To date, no cases of idiopathic or heritable pulmonary arterial hypertension with straight back syndrome have been reported.

Case presentation: A 30-year-old female was diagnosed with pulmonary arterial hypertension by right heart catheterization. Computed tomography revealed a decreased anteroposterior thoracic space with heart compression, indicating a straight back syndrome. Genetic analysis by whole exome sequencing identified a novel c.2423_2424delGT (p.G808Gfs*4) germline frameshift variant within BMPR2 affecting the cytoplasmic tail domain.

Conclusions: This is the first report of different straight back characteristics in heritable pulmonary arterial hypertension with a novel germline BMPR2 variant. This finding may provide a new perspective on the variable penetrance of the pulmonary arterial hypertension phenotype.

Keywords: BMPR2; Cytoplasmic tail; Genetic variation; Pulmonary arterial hypertension; Straight back syndrome.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Bone Morphogenetic Protein Receptors, Type II / genetics
  • Bone Morphogenetic Protein Receptors, Type II / metabolism
  • Familial Primary Pulmonary Hypertension / genetics
  • Female
  • Humans
  • Mutation
  • Phenotype
  • Pulmonary Arterial Hypertension* / genetics

Substances

  • BMPR2 protein, human
  • Bone Morphogenetic Protein Receptors, Type II