Frontiers in pediatrics · 2026
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.
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
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Cadena-Ullauri Santiago, Ruiz-Pozo Viviana A, Tamayo-Trujillo Rafael, Guevara-Ramírez Patricia, Paz-Cruz Elius, Bossano R Rodrigo, Hinojosa Miguel, Onofre-Ruiz Paul, Zambrano Ana Karina
Аннотация
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.
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.