Scimitar syndrome with renal agenesis

Area of Science:

• Cardiology
• Pediatric Cardiology
• Medical Genetics

Background:

• Partial pulmonary venous connection anomaly is an uncommon congenital heart disease.
• Scimitar syndrome, a rare combination of this anomaly with right lung hypoplasia and dextroposition of the heart, typically presents in infancy.
• Adult presentation of Scimitar syndrome is exceedingly rare.

Observation:

• A 38-year-old man presented with flu-like symptoms and incidental chest X-ray abnormalities.
• Diagnostic investigations confirmed Scimitar syndrome.
• Abdominal examination revealed left renal agenesis.

Findings:

• The patient was diagnosed with Scimitar syndrome, a rare congenital heart condition.
• Left renal agenesis was identified concurrently.
• This represents a unique case of Scimitar syndrome coexisting with renal agenesis in an adult.

Implications:

• This case highlights the possibility of asymptomatic adult presentation of Scimitar syndrome.
• The co-occurrence of Scimitar syndrome and renal agenesis is novel and warrants further investigation.
• Reporting this rare combination expands the understanding of congenital anomalies and their presentations.