Defining the clinical validity of genes reported to cause pulmonary arterial hypertension.

doi:10.1016/j.gim.2023.100925

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Defining the clinical validity of genes reported to cause pulmonary arterial hypertension.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Nov 2023

Welch Carrie L, Aldred Micheala A, Balachandar Srimmitha, Dooijes Dennis, Eichstaedt Christina A, Gräf Stefan, Houweling Arjan C, Machado Rajiv D, Pandya Divya, Prapa Matina, Shaukat Memoona, Southgate Laura, Tenorio-Castano Jair, Chung Wendy K

Abstract excerpt

PURPOSE: 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...

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Defining the clinical validity of genes reported to cause pulmonary arterial hypertension.

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