Genetics of pulmonary arterial hypertension

Lucas R. Celant, Samara M.A. Jansen, Irma van de Beek, Dennis Dooijes, Harm Jan Bogaard, Arjan C. Houweling

Research output: Chapter in Book/Report/Conference proceedingChapterAcademicpeer-review

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 languageEnglish
Title of host publicationGenomic and Molecular Cardiovascular Medicine
Subtitle of host publicationa Volume in Genomic and Precision Medicine in Clinical Practice
EditorsD. Kumar, A.A.M. Wilde, P.M. Elliott
PublisherElsevier
Chapter15
Pages253-266
Number of pages14
ISBN (Electronic)9780128229514
ISBN (Print)9780128229200
DOIs
Publication statusPublished - 2024

Keywords

  • Bone morphogenetic protein receptor type 2
  • Hereditary pulmonary arterial hypertension
  • Idiopathic pulmonary arterial hypertension
  • Pulmonary arterial hypertension

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