Juana Espín

Juana Espín

orcid

Research Focus & Metrics

Academic Career Length

5Years (2022-Present)

(Calculated once Scilit publication data is synced: current year − year of first publication + 1)

Representative Publications

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Journal Article
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ACAlejandro Cruz-Utrilla
Alejandro Cruz-Utrilla
NGNatalia Gallego
Natalia Gallego
JTJair Antonio Tenorio
Jair Antonio Tenorio
IRInmaculada Guillén Rodríguez
Inmaculada Guillén Rodríguez
ATAlba Torrent-Vernetta
Alba Torrent-Vernetta
MMMaría Jesús del Cerro Marín
María Jesús del Cerro Marín
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 HIpertensión Pulmonar PEDiátrica (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.

5 July 2025 in Pediatric Cardiology
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Journal Article
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AOAlejandro Rodriguez Ogando
Alejandro Rodriguez Ogando
ASA. Sabaté-Rotés
A. Sabaté-Rotés
AMAmparo Moya
Amparo Moya
LTL. Albert de la Torre
L. Albert de la Torre
JEJuana Espín
Juana Espín
MMMaría Jesús del Cerro Marín
María Jesús del Cerro Marín