Year: 2018
Type: review
Abstract: Since 2000 there have been major advances in our understanding of the genetic and genomics of pulmonary arterial hypertension (PAH), although there remains much to discover. Based on existing knowledge, around 25-30% of patients diagnosed with idiopathic PAH have an underlying Mendelian genetic cause for their condition and should be classified as heritable PAH (HPAH). Here, we summarise the known genetic and genomic drivers of PAH, the insights these provide into pathobiology, and the opportunities afforded for development of novel therapeutic approaches. In addition, factors determining the incomplete penetrance observed in HPAH are discussed. The currently available approaches to genetic testing and counselling, and the impact of a genetic diagnosis on clinical management of the patient with PAH, are presented. Advances in DNA sequencing technology are rapidly expanding our ability to undertake genomic studies at scale in large cohorts. In the future, such studies will provide a more complete picture of the genetic contribution to PAH and, potentially, a molecular classification of this disease.
Source: European Respiratory Journal
Institutions: University of Cambridge, Royal Papworth Hospital, Cambridge University Press, Addenbrooke's Hospital, Indiana University School of Medicine, Columbia University Irving Medical Center, University of Utah, Intermountain Medical Center, Cincinnati Children's Hospital Medical Center, Assistance Publique – Hôpitaux de Paris, Pitié-Salpêtrière Hospital, King's College London, Vanderbilt University Medical Center
Language: English
Subfield: Pulmonary and Respiratory Medicine
Field: Medicine
Domain: Health Sciences
Open Access status: hybrid
OpenAlex ID: W2905257285