Objective:

To present a case of an Ecuadorian girl with congenital supravalvar aortic stenosis and pulmonary valve stenosis, identifying genetic variants associated with these conditions and their potential implications.

Approach:

• Case Presentation: An Ecuadorian girl was evaluated for congenital heart disease, underwent surgical correction, and had genomic analysis revealing pathogenic variants in ELN and BRAF, with the surgical outcomes noted.

Key Findings:

• Pathogenic variants in ELN and BRAF were identified in the patient.
• The case highlights the potential role of genetic testing in understanding complex congenital heart diseases.
• Ancestry analysis revealed a diverse genetic background in the patient.

Interpretation:

The findings indicate a multilocus genetic contribution to the patient's congenital heart condition.

Limitations:

• Causality cannot be established from a single case report.
• Further evidence is required to understand the biological implications of the identified variants in the context of congenital heart disease.

Conclusion:

Comprehensive genomic evaluation can enhance the understanding of congenital heart diseases and support precision medicine approaches.