Cardiofacial Syndrome: A Rare Case Report.

Area of Science:

• Medical Case Report
• Pediatric Cardiology
• Clinical Genetics

Background:

• Cardiofacial syndrome is characterized by craniofacial dysmorphism and congenital heart defects.
• The syndrome's spectrum includes a wide range of cardiac and facial anomalies.
• Early diagnosis and management are vital for improving patient outcomes.

Observation:

• A 6-year-old girl presented with right-sided anotia, facial nerve palsy, and exertional dyspnea.
• Physical examination revealed a harsh ejection systolic murmur.
• Echocardiography confirmed critical infundibular pulmonary stenosis and a small patent ductus arteriosus.

Findings:

• This case represents a rare presentation of cardiofacial syndrome.
• The patient underwent successful surgical correction, including patent ductus arteriosus ligation and infundibular band excision.
• No complications were noted post-surgery.

Implications:

• Highlights the importance of a high index of suspicion for cardiac anomalies in children with facial abnormalities.
• Emphasizes the need for comprehensive evaluation in suspected cases of cardiofacial syndrome.
• Suggests that prompt surgical intervention can lead to favorable outcomes in complex cases.