Abstract
Pulmonary arterial hypertension (PAH) is a severe, life-threatening disease. In a minority of patients, approximately 25% PAH is caused by a genetic predisposition (Swietlik et al., 2021). In the last 2decades, great progress has been made in understanding the genetics of PAH. However much remains to be discovered. A major breakthrough was the identification of pathogenic variants in the gene encoding bone morphogenetic protein receptor type II (BMPR2) which are the most common genetic cause of familial PAH (Montani et al., 2021; van den Heuvel et al., 2020). Recent technological developments in next-generation sequencing have enabled rapid gene sequencing which resulted in declining cost and allowing genomic studies in large patient cohorts. This has led to the identification of additional genes associated with heritable PAH. The present chapter provides an overview of the clinical and genetic aspects of PAH.
Original language | English |
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Title of host publication | Genomic and Molecular Cardiovascular Medicine |
Subtitle of host publication | a Volume in Genomic and Precision Medicine in Clinical Practice |
Editors | D. Kumar, A.A.M. Wilde, P.M. Elliott |
Publisher | Elsevier |
Chapter | 15 |
Pages | 253-266 |
Number of pages | 14 |
ISBN (Electronic) | 9780128229514 |
ISBN (Print) | 9780128229200 |
DOIs | |
Publication status | Published - 2024 |
Keywords
- Bone morphogenetic protein receptor type 2
- Hereditary pulmonary arterial hypertension
- Idiopathic pulmonary arterial hypertension
- Pulmonary arterial hypertension