[Heritable pulmonary arterial hypertension].
Christina A EichstaedtMemoona ShaukatEkkehard GrünigPublished in: Innere Medizin (Heidelberg, Germany) (2024)
Heritable pulmonary arterial hypertension (PAH) can be triggered by at least 18 genes. The most frequently altered gene is the bone morphogenetic protein receptor 2 (BMPR2). Further genes from the same pathway are also well known PAH-causing genes. Genetic testing can aid to confirm differential diagnoses such as a pulmonary veno-occlusive disease. It also enables the testing of healthy family members. In addition to the PAH patient population particularly served by genetic testing, this article touches on the mode of inheritance and provides insights into the first treatments soon on the market that rebalance the BMPR2 signaling pathway.
Keyphrases
- pulmonary arterial hypertension
- pulmonary hypertension
- genome wide
- pulmonary artery
- genome wide identification
- signaling pathway
- genome wide analysis
- bioinformatics analysis
- polycyclic aromatic hydrocarbons
- extracorporeal membrane oxygenation
- dna methylation
- copy number
- epithelial mesenchymal transition
- transcription factor
- mitochondrial dna
- case report
- health insurance
- coronary artery
- cell proliferation
- gene expression
- induced apoptosis
- endoplasmic reticulum stress