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Clinical Implications of the Genetic Background in Pediatric Pulmonary Arterial Hypertension: Data from the Spanish REHIPED Registry

Fecha de publicación: Fecha Ahead of Print:

Autores de IIS La Fe

Participantes ajenos a IIS La Fe

  • Cruz-Utrilla, Alejandro
  • Gallego-Zazo, Natalia
  • Antonio Tenorio-Castano, Jair
  • Guillen, Inmaculada
  • Torrent-Vernetta, Alba
  • Labrandero, Carlos
  • Garrido-Lestache Rodriguez-Monte, Maria Elvira
  • Rodriguez-Ogando, Alejandro
  • del Mar Rodriguez Vazquez Del Rey, Maria
  • Espin, Juana
  • Plata-Izquierdo, Beatriz
  • Alvarez-Fuente, Maria
  • Moreno-Galdo, Antonio
  • Escribano-Subias, Pilar
  • Del Cerro Marin, Maria Jesus

Abstract

Background: 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. Objectives: The aim of this work was to identify the molecular fingerprint of PH children in the REgistro de pacientes con HIpertension Pulmonar PEDiatrica (REHIPED), and to investigate if genetics could have an impact in clinical reclassification and prognosis. Methods: 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. Results: 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. Conclusions: Genetic testing changed the clinical classification of a significant proportion of patients. This reclassification showed relevant prognostic implications.

Datos de la publicación

ISSN/ISSNe:
1661-6596, 1661-6596

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES  MDPI AG

Tipo:
Article
Páginas:
-
Factor de Impacto:
1,176 SCImago ℠
Cuartil:
Q1 SCImago ℠

Citas Recibidas en Web of Science: 5

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Keywords

  • pediatric pulmonary hypertension; genetics; heritable pulmonary arterial hypertension; pulmonary veno-occlusive disease

Proyectos asociados

OPEN-LABEL, INDIVIDUAL DOSE TITRATION STUDY TO EVALUATE SAFETY, TOLERABILITY AND PHARMACOKINETICS OF RIOCIGUAT IN CHILDREN FROM 6 TO LESS THAN 18 YEARS OF AGE WITH PULMONARY ARTERIAL HYPERTENSION (PAH).

Investigador Principal: AMPARO MOYA BONORA

BAY63-2521/15681 . 2017

ESTUDIO PROSPECTIVO, ABIERTO Y CONTROLADO CON MEDICACIÓN ACTIVA PARA EVALUAR LA FARMACOCINÉTICA, LA FARMACODINAMIA, LA SEGURIDAD Y LA EFICACIA DE RIVAROXABÁN PARA LA TROMBOPROFILAXIS DE NIÑOS DE 2 A 8 AÑOS DE EDAD DESPUÉS DEL PROCEDIMIENTO DE FONTAN.

Investigador Principal: JOSÉ IGNACIO CARRASCO MORENO

39039039CHD3001 . 2017

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