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 - Report - MDSpire
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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
Clinical Report: Identification of Dual Genetic Factors in Congenital Heart Condition
Overview
This case study presents an Ecuadorian girl with congenital supravalvar aortic stenosis and pulmonary valve stenosis linked to pathogenic variants in ELN and BRAF genes.
Background
Congenital heart diseases (CHDs) are prevalent and a leading cause of morbidity and mortality in children. Advances in genomic medicine have enhanced the identification of genetic factors contributing to CHDs, particularly in cases with complex phenotypes.
Data Highlights
Molecular analysis identified pathogenic variants in ELN and BRAF, along with a NOTCH1 variant of uncertain significance.
Key Findings
The patient exhibited congenital supravalvar aortic stenosis and pulmonary valve stenosis.
Pathogenic variants in ELN and BRAF were identified as contributing factors.
Ancestry analysis indicated a predominantly European background with Native American and African components.
Genetic evaluation is essential for refining the diagnosis of complex CHDs.
Clinical Implications
Genetic testing can provide insights into the etiology of congenital heart diseases. Clinicians should consider genomic evaluations in patients with complex CHD presentations.
Conclusion
This case highlights the role of genetic testing in congenital heart diseases.
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
