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 - Takeaways - MDSpire

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

  • By

  • Santiago Cadena-Ullauri

  • Viviana A. Ruiz-Pozo

  • Rafael Tamayo-Trujillo

  • Patricia Guevara-Ramírez

  • Elius Paz-Cruz

  • Rodrigo Bossano R

  • Miguel Hinojosa

  • Paul Onofre-Ruiz

  • Ana Karina Zambrano

  • July 13, 2026

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  • 1

    Congenital heart diseases (CHDs) are the most common inherited anomalies and a major cause of mortality in pediatric populations.

  • 2

    An Ecuadorian girl exhibited congenital supravalvar aortic stenosis and pulmonary valve stenosis with pathogenic variants in ELN and BRAF.

  • 3

    Genomic analysis revealed a NOTCH1 variant of uncertain significance, highlighting the complexity of genetic contributions to CHD.

  • 4

    Ancestry analysis indicated a mixed genetic background, emphasizing the need for cardiogenetic evidence from diverse populations.

  • 5

    Comprehensive genomic evaluation can enhance diagnosis and support precision medicine approaches in managing congenital heart conditions.

Original Source(s)

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

  • by Santiago Cadena-Ullauri, Viviana A. Ruiz-Pozo, Rafael Tamayo-Trujillo, Patricia Guevara-Ramírez, Elius Paz-Cruz, Rodrigo Bossano R, Miguel Hinojosa, Paul Onofre-Ruiz, Ana Karina Zambrano

  • July 13, 2026

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