Phenotype and outcome of pulmonary arterial hypertension patients carrying a TBX4 mutation.

Pierre ThoréBarbara GirerdXavier JaïsLaurent Savale Maria-Rosa GhignaMélanie EyriesMarilyne LevyCaroline OvaertAmélie ServettazAnne GuillaumotClaire DauphinCéline ChabanneEmmanuel BoiffardVincent CottinFrédéric PerrosGérald SimonneauOlivier Sitbon Florent SoubrierDamien BonnetMartine Remy-JardinAri Chaouat Marc Humbert I David Montani

Published in: The European respiratory journal (2020)

PAH due to TBX4 mutations may occur with or without skeletal abnormalities across a broad age range from birth to late adulthood. PAH is usually severe and associated with bronchial and parenchymal abnormalities.

Keyphrases

pulmonary arterial hypertension
end stage renal disease
pulmonary artery
pulmonary hypertension
ejection fraction
prognostic factors
depressive symptoms
peritoneal dialysis
early onset
polycyclic aromatic hydrocarbons
patient reported