Cor pulmonale and facio-auriculo-vertebral sequence

Area of Science:

• Pediatric Otolaryngology
• Cardiology
• Genetics

Background:

• Facio-auriculo-vertebral sequence (FAVS) is a congenital disorder affecting craniofacial structures.
• Cor pulmonale, a form of right heart failure, can arise from chronic airway obstruction.
• Airflow impedance in children with craniofacial anomalies poses a significant health risk.

Observation:

• Two pediatric patients with FAVS presented with cor pulmonale secondary to chronic airway obstruction.
• These patients had normal-sized tonsillar and adenoidal tissue.
• Diminished pharyngeal dimensions, micrognathia, and midface hypoplasia were noted in the affected children.

Findings:

• Surgical removal of tonsils and adenoids led to rapid and complete resolution of cor pulmonale in both patients.
• The intervention effectively addressed the chronic airway obstruction.
• This suggests a direct link between upper airway obstruction and cardiac complications in these patients.

Implications:

• Early and close observation of children with craniofacial malformations is essential.
• Prompt surgical intervention for airway obstruction may prevent progressive airflow impedance and right heart failure.
• This approach highlights a potentially effective treatment strategy for cor pulmonale in specific pediatric populations.