Is a referral to a specialist needed for a 12-year-old female with new onset pectus carinatum?

Referral for Pectus Carinatum in a 12-Year-Old Female

Yes, a 12-year-old female with new onset pectus carinatum should be referred to a pediatric surgeon or pediatric surgical specialist at a comprehensive, multidisciplinary clinic at a specialized pediatric center. 1

Rationale for Referral

• Pectus carinatum is a congenital chest wall deformity characterized by protrusion of the sternum and/or adjacent costal cartilages
• The American Academy of Pediatrics specifically recommends that pediatric patients with pectus carinatum should be evaluated by a pediatric surgical specialist 1
• Early evaluation is important as treatment options and outcomes may be affected by:
  • Age of the patient
  • Severity of the deformity
  • Chest wall flexibility/compressibility
  • Psychological impact

Initial Specialist Evaluation

The pediatric surgeon will conduct a comprehensive assessment that includes:

• Determination of severity and type of pectus carinatum
• Evaluation of chest wall compressibility (critical for treatment planning)
• Assessment of psychological impact on the patient
• Screening for associated conditions 1

Associated Conditions Requiring Evaluation

Pectus carinatum may be associated with various conditions that require additional evaluation:

• Marfan syndrome
• Noonan syndrome
• Osteogenesis imperfecta
• Mitral valve prolapse 2
• Scoliosis (occurs in approximately 33% of individuals with some conditions associated with chest wall deformities) 3

Treatment Options

The pediatric surgeon will determine the most appropriate treatment approach:

1. Conservative management:

   • Bracing therapy - particularly effective in patients with flexible chest walls
   • Psychological support

2. Surgical intervention:

   • Typically considered for severe cases or when bracing is unsuccessful
   • May include subperiosteal resection of deformed cartilages, transverse osteotomy, or minimally invasive techniques 4, 5

Important Considerations

• Pectus carinatum often causes more severe respiratory symptoms and exercise limitations than generally recognized 4
• The condition can significantly impact psychological well-being during crucial developmental periods 6
• Early referral allows for optimal timing of interventions, particularly since bracing is most effective during periods of active growth 5

Follow-up Protocol

After initial consultation with a pediatric surgeon:

• Regular follow-up visits at 3-6 month intervals
• Compliance monitoring for patients undergoing bracing
• Post-correction follow-up to ensure maintenance of results 1

Access Considerations

In communities with limited access to pediatric surgical specialists, the primary care pediatrician should consult with the nearest pediatric surgical specialist to determine if referral is necessary 1. However, given the potential complexity of managing pectus carinatum and its associated conditions, evaluation by a specialist is strongly recommended.