학술논문
Defining the Clinical Validity of Genes Reported to Cause Pulmonary Arterial Hypertension
Document Type
Article
Author
Welch, Carrie L.; Aldred, Micheala A.; Balachandar, Srimmitha; Dooijes, Dennis; Eichstaedt, Christina A.; Graf, Stefan; Houweling, Arjan C.; Machado, Rajiv D.; Pandya, Divya; Prapa, Matina; Shaukat, Memoona; Southgate, Laura; Tenorio-Castano, Jair; Callejo, Emily P.; Day, Kristina M.; Macaya, Daniela; Maldonado-Velez, Gabriel; Chung, Wendy K.; Archer, Stephen L.; Auckland, Kathryn; Austin, Eric D.; Badagliacca, Roberto; Barbera, Joan-Albert; Belge, Catharina; Bogaard, Harm Jan; Bonnet, Sebastien; Boomars, Karin A.; Boucherat, Olivier; Chakinala, Murali M.; Condliffe, Robin; Damico, Rachel Lynn; Delcroix, Marion; Desai, Ankit A.; Doboszynska, Anna; Elliott, C. Greg; Eyries, Melanie; Escribano Subias, Maria Pilar; Gall, Henning; Ghio, Stefano; Ghofrani, Ardeschir-Hossein; Grunig, Ekkehard; Hamid, Rizwan; Harbaum, Lars; Hassoun, Paul M.; Hemnes, Anna R.; Hinderhofer, Katrin; Howard, Luke S.; Humbert, Marc; Kiely, David G.; Langleben, David; Lawrie, Allan; Loyd, Jim E.; Moledina, Shahin; Montani, David; Morrell, Nichols W.; Nichols, William C.; Olschewski, Andrea; Olschewski, Horst; Papa, Silvia; Pauciulo, Mike W.; Provencher, Steve; Quarck, Rozenn; Rhodes, Christopher J.; Scelsi, Laura; Seeger, Werner; Stewart, Duncan J.; Sweatt, Andrew; Swietlik, Emilia M.; Treacy, Carmen; Trembath, Richard C.; Tura-Ceide, Olga; Vizza, Carmine Dario; Noordegraaf, Anton Vonk; Wilkins, Martin R.; Zamanian, Roham T.; Zateyshchikov, Dmitry
Source
Genetics in Medicine; 20230101, Issue: Preprints
Subject
Language
ISSN
10983600; 15300366
Abstract
Pulmonary arterial hypertension (PAH) is a rare, progressive vasculopathy with significant cardiopulmonary morbidity and mortality. Genetic testing is currently recommended for adults diagnosed with heritable, idiopathic, anorexigen-, hereditary hemorrhagic telangiectasia-, and congenital heart disease-associated PAH, PAH with overt features of venous/capillary involvement, and all children diagnosed with PAH. Variants in at least 27 genes have putative evidence for PAH causality. Rigorous assessment of the evidence is needed to inform genetic testing.