A cluster of heritable pulmonary arterial hypertension cases in a family with all three siblings carrying the same novel AQP1 c.273C>G variant‐a case report
Abstract Approximately 25%–30% of patients diagnosed with idiopathic pulmonary arterial hypertension (PAH) have a clustered underlying Mendelian genetic cause and should be classified as heritable PAH (HPAH). The sixth World Symposium on Pulmonary Hypertension listed AQP1 as a PAH‐related gene. AQP1...
Main Authors: | , , , , |
---|---|
Format: | Article |
Language: | English |
Published: |
Wiley
2023-04-01
|
Series: | Pulmonary Circulation |
Subjects: | |
Online Access: | https://doi.org/10.1002/pul2.12211 |