Article
Clinical phenotypes and outcomes of heritable and sporadic pulmonary veno-occlusive disease: a population-based study.
The Lancet. Respiratory medicine - 1 Feb 2017
Montani David, Girerd Barbara, Jaïs Xavier, Levy Marilyne, Amar David, Savale Laurent, Dorfmüller Peter, Seferian Andrei, Lau Edmund M, Eyries Mélanie, Le Pavec Jérôme, Parent Florence, Bonnet Damien, Soubrier Florent, Fadel Elie, Sitbon Olivier, Simonneau Gérald, Humbert Marc
Abstract excerpt
BACKGROUND: Bi-allelic mutations of the EIF2AK4 gene cause heritable pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis (PVOD/PCH). We aimed to assess the effect of EIF2AK4 mutations on the clinical phenotypes and outcomes of PVOD/PCH. METHODS: We did a population-based study using clinical, functional, and haemodynamic data from the registry of the French Pulmonary Hypertension Network....
Topics
- Adolescent
- Adult
- Age of Onset
- Aged
- Aged, 80 and over
- Alleles
- Child
- Child, Preschool
- Disease-Free Survival
- Familial Primary Pulmonary Hypertension