Back to Search
Start Over
Coexistence of pulmonary arterial hypertension and straight back syndrome in a patient with a novel BMPR2 variant affecting cytoplasmic tail domain
- Source :
- European Journal of Medical Research, Vol 29, Iss 1, Pp 1-6 (2024)
- Publication Year :
- 2024
- Publisher :
- BMC, 2024.
-
Abstract
- 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.
Details
- Language :
- English
- ISSN :
- 2047783X
- Volume :
- 29
- Issue :
- 1
- Database :
- Directory of Open Access Journals
- Journal :
- European Journal of Medical Research
- Publication Type :
- Academic Journal
- Accession number :
- edsdoj.f1316d29addd45bb85b725c4eeaa342f
- Document Type :
- article
- Full Text :
- https://doi.org/10.1186/s40001-024-01810-x