Article
Genetic background of pulmonary (vascular) diseases - how much is written in the codes?
Current opinion in pulmonary medicine - 1 Sept 2024
Eichstaedt Christina A, Haas Simon O, Shaukat Memoona, Grünig Ekkehard
Abstract excerpt
PURPOSE OF REVIEW: To provide a comprehensive overview of the underlying genetic defects of pulmonary (vascular) diseases and novel treatment avenues. RECENT FINDINGS: Pulmonary arterial hypertension (PAH) is the prime example of a pulmonary vascular disease, which can be caused by genetic mutations in some patients. Germline mutations in the BMPR2 gene and further genes lead to vessel remodelling, increase of...
Topics
- Humans
- Genetic Testing
- alpha 1-Antitrypsin Deficiency
- Cystic Fibrosis
- Bone Morphogenetic Protein Receptors, Type II
- Lymphangioleiomyomatosis
- Hypertension, Pulmonary
- Pulmonary Arterial Hypertension
- Genetic Predisposition to Disease
- Mutation