RT Journal Article
T1 Clinical Implications of the Genetic Background in Pediatric Pulmonary Arterial Hypertension: Data from the Spanish REHIPED Registry.
A1 Cruz-Utrilla, Alejandro
A1 Gallego-Zazo, Natalia
A1 Tenorio-Castaño, Jair Antonio
A1 Guillén, Inmaculada
A1 Torrent-Vernetta, Alba
A1 Moya-Bonora, Amparo
A1 Labrandero, Carlos
A1 Rodríguez-Monte, María Elvira Garrido-Lestache
A1 Rodríguez-Ogando, Alejandro
A1 Rey, María Del Mar Rodríguez Vázquez Del
A1 Espín, Juana
A1 Plata-Izquierdo, Beatriz
A1 Álvarez-Fuente, María
A1 Moreno-Galdó, Antonio
A1 Escribano-Subias, Pilar
A1 Marín, María Jesús Del Cerro
K1 genetics
K1 heritable pulmonary arterial hypertension
K1 pediatric pulmonary hypertension
K1 pulmonary veno-occlusive disease
AB Pulmonary arterial hypertension (PAH) is a severe and rare disease with an important genetic background. The influence of genetic testing in the clinical classification of pediatric PAH is not well known and genetics could influence management and prognosis. The aim of this work was to identify the molecular fingerprint of PH children in the REgistro de pacientes con HIpertensión Pulmonar PEDiátrica (REHIPED), and to investigate if genetics could have an impact in clinical reclassification and prognosis. We included pediatric patients with a genetic analysis from REHIPED. From 2011 onward, successive genetic techniques have been carried out. Before genetic diagnosis, patients were classified according to their clinical and hemodynamic data in five groups. After genetic analysis, the patients were reclassified. The impact of genetics in survival free of lung transplantation was estimated by Kaplan-Meier curves. Ninety-eight patients were included for the analysis. Before the genetic diagnoses, there were idiopathic PAH forms in 53.1%, PAH associated with congenital heart disease in 30.6%, pulmonary veno-occlusive disease-PVOD-in 6.1%, familial PAH in 5.1%, and associated forms with multisystemic disorders-MSD-in 5.1% of the patients. Pathogenic or likely pathogenic variants were found in 44 patients (44.9%). After a genetic analysis, 28.6% of the cohort was "reclassified", with the groups of heritable PAH, heritable PVOD, TBX4, and MSD increasing up to 18.4%, 8.2%, 4.1%, and 12.2%, respectively. The MSD forms had the worst survival rates, followed by PVOD. Genetic testing changed the clinical classification of a significant proportion of patients. This reclassification showed relevant prognostic implications.
YR 2022
FD 2022-09-09
LK http://hdl.handle.net/10668/21195
UL http://hdl.handle.net/10668/21195
LA en
DS RISalud
RD Apr 11, 2025