Clinical Scorecard: Clinical Case Study: Identification of Dual Genetic Factors in a Complex Congenital Heart Condition in an Ecuadorian Patient with Supravalvar Aortic Stenosis and Pulmonary Valve Stenosis Linked to ELN and BRAF Gene Variants

At a Glance

Key Highlights

• Case of an Ecuadorian girl with supravalvar aortic stenosis and pulmonary valve stenosis
• Identification of pathogenic variants in ELN and BRAF genes
• Importance of genomic testing in understanding complex CHD phenotypes
• Ancestry analysis revealed a mixed genetic background
• Highlights the need for cardiogenetic evidence from underrepresented populations

Guideline-Based Recommendations

Diagnosis

• Comprehensive genomic evaluation to refine etiologic diagnosis
• Utilization of Next-Generation Sequencing (NGS) for variant detection

Management

• Individualized management based on genetic findings
• Consideration of ancestry-informed patient management

Monitoring & Follow-up

• Surveillance for extracardiac manifestations and recurrence risk

Risks

• Incomplete etiological diagnosis in many patients with CHD

Patient & Prescribing Data

Pediatric patients with congenital heart anomalies

Surgical correction and genomic analysis are critical components of management

Clinical Best Practices

• Early diagnosis and individualized management to reduce complications
• Integration of genetic evaluation in clinical practice for CHD

Related Resources & Content

• International Paediatric and Congenital Cardiac Code (IPCCC)
• ICD-11 congenital cardiology nomenclature