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 - Top-Institutions - 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

Share

Top Institutions in Cardiology

Brief introduction explaining scope and methodology.

  • #1

    Boston Children’s Hospital
    Boston Children’s Hospital

    Boston, Massachusetts

    Key Differentiators

    • Cardiology
    • Genetics

  • #2

    Children’s Hospital of Philadelphia
    Children’s Hospital of Philadelphia

    Philadelphia, Pennsylvania

    Key Differentiators

    • Cardiology
    • Genetics

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

Related Content

Comparative effectiveness of various exercise modalities on arterial stiffness and endothelial function in older adults: a systematic review and network meta-analysis of randomised controlled trials

Precision cardiovascular medicine: global imperative for equity through innovation

Effects of statins on functional capacity and cardiac remodeling in patients with heart failure and preserved ejection fraction: a randomized open-label pilot trial