Usefulness of genetics for clinical reclassification and refinement of prognostic stratification in pulmonary arterial hypertension

Risk stratification in pulmonary arterial hypertension (PAH) is essential to provide more aggressive treatment for patients at higher risk. Nevertheless, recently introduced simplified prognostic tools neglect the genetic background. Additionally, pulmonary veno-oclusive disease (PVOD) has never bee...

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Veröffentlicht in:Revista española de cardiología (English ed.) 2023-06, Vol.76 (6), p.460-467
Hauptverfasser: Cruz-Utrilla, Alejandro, Gallego-Zazo, Natalia, Pérez-Olivares, Carmen, Hernández-González, Ignacio, Bedate, Pedro, Martínez Meñaca, Amaya, López Meseguer, Manuel, Lapunzina, Pablo, Pérez Núñez, Marta, Ochoa Parra, Nuria, Valverde, Diana, Tenorio-Castaño, Jair Antonio, Escribano-Subias, Pilar
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Sprache:eng
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Zusammenfassung:Risk stratification in pulmonary arterial hypertension (PAH) is essential to provide more aggressive treatment for patients at higher risk. Nevertheless, recently introduced simplified prognostic tools neglect the genetic background. Additionally, pulmonary veno-oclusive disease (PVOD) has never been considered in risk assessment strategies. We analyzed consecutive patients in the Spanish registry of PAH (REHAP) genetically tested, between 2011 and 2022. We applied the 4-strata COMPERA 2.0 model, comparing these results with an amplified score including genetics. Cox regression models were compared using Harrel c-statistics. The application of the model was specifically tested in PVOD before inclusion. We identified 298 patients tested genetically among the group of idiopathic, familial, drug-induced PAH and PVOD patients in the REHAP registry. When we analyzed only patients with all available variables of interest at baseline (World Health Organization functional class, 6-minute walk test, B-type natriuretic peptide or N-terminal pro-B-type natriuretic peptide) and included in the 4-strata model (n=142), after a median follow-up of 58.2 months, 17.6% of patients died and 11.3% underwent lung transplant. The application of the 4-strata model in our population demonstrated a good prognostic capacity (Harrel c of 0.689), which was not improved by the introduction of genetics (c-index 0.690). This last model showed a tendency for a better identification of patients at intermediate-low and intermediate-high risk, and no differences between intermediate-high and high-risk strata. In this work, the addition of genetics to the COMPERA 4-strata model achieved a similar global prognostic capacity but changed the identification of different risk strata in a cohort of young genetically tested patients. La evaluación del riesgo en la hipertensión arterial pulmonar (HAP) es esencial de cara a administrar un tratamiento más agresivo a aquellos pacientes de mayor riesgo. Sin embargo, las escalas pronósticas más recientes olvidan el trasfondo genético. Además, la enfermedad venooclusiva pulmonar (EVOP) no se ha considerado nunca en las estrategias de evaluación del riesgo. Se consideraron para este trabajo pacientes consecutivos incluidos en el registro Español de HAP (REHAP) analizados genéticamente entre los años 2011 y 2022. Se aplicó en ellos el modelo COMPERA 2.0 de 4 estratos, comparando este resultado con el obtenido de un modelo ampliado que incluyó la genética. S
ISSN:1885-5857
1885-5857
DOI:10.1016/j.rec.2022.11.002