Case of Williams elfin facies syndrome with pulmonary artery sling

Area of Science:

• Cardiology
• Pediatrics
• Medical Genetics

Background:

• Williams elfin facies syndrome is a rare genetic disorder associated with various congenital anomalies.
• Cardiovascular anomalies, including pulmonary stenosis, are frequently observed in Williams elfin facies syndrome.
• Pulmonary artery sling is a rare congenital vascular anomaly where the left pulmonary artery arises from the right pulmonary artery, passing between the trachea and the esophagus.

Observation:

• A 4-year-old girl with Williams elfin facies syndrome presented with persistent wheezing and a heart murmur.
• Clinical findings and investigations confirmed the presence of pulmonary artery sling in addition to pulmonary stenosis.
• The patient's history of severe neonatal wheezing prompted a detailed cardiovascular and airway examination.

Findings:

• The case highlights a rare co-occurrence of pulmonary artery sling and cardiovascular anomalies in Williams elfin facies syndrome.
• Both pulmonary artery sling and cardiovascular issues in Williams elfin facies syndrome are potentially linked to developmental abnormalities of the 6th aortic arch.
• This represents the second documented instance of this specific combination of rare anomalies.

Implications:

• This case underscores the importance of thorough cardiovascular and airway evaluation in children diagnosed with Williams elfin facies syndrome.
• Understanding the shared developmental pathway involving the 6th aortic arch may offer insights into the pathogenesis of these combined anomalies.
• Further research into the genetic and developmental links between Williams elfin facies syndrome, pulmonary artery sling, and other cardiovascular defects is warranted.