ONOFRE RUIZ, PAUL FERNANDO
Preferred name
ONOFRE RUIZ, PAUL FERNANDO
Main Affiliation
SF
Scopus Author ID
58712343300
3 results
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Item type:Publication, Identification of a novel NKX2-5 variant in a young Ecuadorian patient with atrioventricular block and bradycardia: a case report(Frontiers Media SA, 2025-04-03); ; ; Scopus© Citations 3 - Some of the metrics are blocked by yourconsent settings
Item type:Publication, Case Report: Dual molecular diagnosis in complex congenital heart disease in an Ecuadorian patient with supravalvar aortic stenosis and pulmonary valve stenosis carrying pathogenic variants in ELN and BRAF gene(Frontiers Media SA, 2026-07-13); ; ; Background Congenital heart diseases (CHDs) are the most common inherited anomalies worldwide and remain a major cause of mortality in pediatric populations. Advances in genomic medicine have improved the ability to identify molecular mechanisms underlying complex CHD phenotypes, including cases not fully explained by a single-gene disorder. Case presentation This case presents an Ecuadorian girl with the coexistence of congenital supravalvar aortic stenosis and congenital valvar pulmonary stenosis. Molecular analysis identified pathogenic variants in ELN and BRAF , together with a NOTCH1 p.(Leu2429Arg) variant of uncertain significance (VUS). Ancestry analysis revealed an admixed background with predominant European ancestry, followed by Native American and African components. Discussion Findings are consistent with a multilocus in which ELN and BRAF variants may biologically plausibly contribute to the observed phenotype; however, this should be taken cautiously as more evidence, and studies must be performed to understand the impact of these variants. This case also highlights the importance of generating cardiogenetic evidence from underrepresented Latin American populations. Conclusion Comprehensive genomic evaluation can refine etiologic diagnosis, reveal blended mechanisms in CHD, and support precision medicine approaches. This report contributes to the growing role of advanced genetic testing in the future management of CHD. - Some of the metrics are blocked by yourconsent settings
Item type:Publication, Associations of MYPN, TTN, SCN5A, MYO6 and ELN Mutations With Arrhythmias and Subsequent Sudden Cardiac Death: A Case Report of an Ecuadorian Individual(Elmer Press, Inc., 2023-10); ; ; Jose Luis Laso-BayasScopus© Citations 11