ArticleInternational journal of molecular sciences2022
Clinical Implications of the Genetic Background in Pediatric Pulmonary Arterial Hypertension: Data from the Spanish REHIPED Registry.
Article in International journal of molecular sciences, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed, 8 citations in OpenAlex.
- The genetic epidemiology and genotype-phenotype correlations among Chinese children with idiopathic and heritable pulmonary arterial hypertension.Respiratory research · 2025Article
- Review
- Pulmonary Hypertension and Hypothyroidism-Still an Important Clinical Coincidence in Paediatric Population, an Endocrinologist's Point of View.Life (Basel, Switzerland) · 2024Review
- Pulmonary arterial hypertension related to congenital heart disease with a left-to-right shunt: phenotypic spectrum and approach to management.Frontiers in cardiovascular medicine · 2024Review
- Genes in pediatric pulmonary arterial hypertension and the most promisingFrontiers in genetics · 2022Review
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16 authors at 11 institutions in 1 country.
Funding
Abstract
backgroundPulmonary 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.
objectivesThe aim of this work was to identify the molecular fingerprint of PH children in the
methodsWe 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.
resultsNinety-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.
conclusionsGenetic testing changed the clinical classification of a significant proportion of patients. This reclassification showed relevant prognostic implications.
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