The role of genomics and genetics in pulmonary arterial hypertension

Authors

  • Emilia M Swietlik Department of Medicine, University of Cambridge, Cambridge Biomedical Campus, Cambridge, United Kingdom & Addenbrooke’s Hospital NHS Foun- dation Trust, Cambridge Biomedical Campus, Cambridge, United Kingdom & Royal Papworth Hospital NHS Foun- dation Trust, Cambridge Biomedical Campus, Cambridge, United Kingdom
  • Stefan Gräf Department of Medicine, University of Cambridge, Cambridge Biomedical Campus, Cambridge, United Kingdom & Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, United Kingdom & NIHR BioResource for Translational Research, Cambridge Biomedical Campus, Cambridge.
  • Nicolas W Morrell Department of Medicine, University of Cambridge, Cambridge Biomedical Campus, Cambridge, United Kingdom & Addenbrooke’s Hospital NHS Foun- dation Trust, Cambridge Biomedical Campus, Cambridge, United Kingdom & Royal Papworth Hospital NHS Foun- dation Trust, Cambridge Biomedical Campus, Cambridge, United Kingdom & NIHR BioResource for Translational Research, Cambridge Biomedical Campus, Cambridge, UK

DOI:

https://doi.org/10.21542/gcsp.2020.13

Abstract

[No abstract. Showing first paragraph of article]

Although pulmonary hypertension (PH) had been recognised for centuries, it was not until the invention of cardiac catheterisation in the 1950s that enabled an accurate gene encoding bone morphogenetic protein receptor type 2, in patients with familial and clinical diagnosis. The discovery of heterozygous germline mutations in BMPR2, the idiopathic forms of pulmonary arterial hypertension (PAH) was another breakthrough in understanding the disease and initiated a new era in care of patients with this condition.

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Published

2020-09-27

Issue

Vol. 2020 No. 1 (2020)

Section

Review articles

License

This is an open access article distributed under the terms of the Creative Commons Attribution license CC BY 4.0, which permits unrestricted use, distribution and reproduction in any medium, provided the original work is properly cited.