What is pectus excavatum?

Pectus Excavatum

Pectus excavatum is a congenital chest wall deformity characterized by a depression of the sternum and costal cartilages, creating a sunken or funnel-shaped appearance of the anterior chest wall.

Definition and Prevalence

• Most common congenital chest wall deformity, affecting 1 in 300-1000 live births 1
• Male predominance with a male-to-female ratio of 5:1 1
• Most patients present in their first year of life, though the deformity often becomes more pronounced during adolescent growth spurts 1, 2

Clinical Features

Physical Characteristics

• Depression of the sternum and costal cartilages creating a concave appearance of the anterior chest
• May be symmetric or asymmetric
• Often associated with other skeletal abnormalities:
  • Straight thoracic spine
  • Thoracic skeletal abnormalities 3
  • May be a feature in connective tissue disorders like Marfan syndrome 3, 4

Physiological Impact

• Cardiovascular effects:

  • Potential cardiac compression or displacement 2
  • Associated with mitral valve prolapse in approximately 15% of cases 2
  • May affect right ventricular volume 2

• Pulmonary effects:

  • Lung volumes typically mildly decreased but within normal range 5
  • Evidence of lower airway obstruction in some patients 5
  • May cause mild air-trapping 5

Clinical Assessment

Severity Evaluation

• Haller index: Key measurement for determining severity
  • Calculated from CT imaging as the ratio of transverse chest diameter to anteroposterior diameter
  • Index >3.2 indicates moderate to severe pectus excavatum 1
  • Used for insurance reimbursement decisions for surgical correction

Recommended Evaluations

• Physical examination to document the deformity
• Chest imaging (CT or MRI) to calculate Haller index and assess cardiac/pulmonary compression 1
• Pulmonary function testing to evaluate for restrictive pattern 2
• Echocardiography to assess for mitral valve prolapse and cardiac compression 2

Clinical Implications

Symptoms

• Exercise intolerance (primarily due to cardiovascular rather than pulmonary causes) 5
• Shortness of breath with exertion 2
• Chest pain 2
• Psychological impact often exceeds physical effects 5, 6
  • Body image concerns
  • Decreased quality of life
  • Psychological distress, especially during adolescence 1

Associated Conditions

• May be associated with Marfan syndrome and other connective tissue disorders 3, 4
• Can be seen in Noonan syndrome, characterized by short stature, webbed neck, hypertelorism, and other features 3
• Mitral valve prolapse occurs in approximately 15% of patients 2

Management Considerations

Surgical Options

• Nuss procedure: Minimally invasive technique using metal bar(s) to elevate the sternum 1
• Ravitch procedure: Open surgical repair involving resection of abnormal cartilage 1
• Modified taulinoplasty with Pectus Up technique: Newer approach for severe cases 7
• Custom-made silicone implants: Less invasive alternative for patients without physiologic limitations 6

Timing Considerations

• In patients with Marfan syndrome and aortic root dilation, aortic root surgery takes precedence over pectus repair 4
• Surgical correction typically considered during childhood or adolescence

Indications for Surgical Intervention

Surgical treatment should be considered with two or more of the following 2:

• Severe, symptomatic deformity
• Progressive deformity
• Paradoxical respiratory chest wall motion
• Haller index greater than 3.25
• Cardiac compression/displacement and/or pulmonary compression
• Restrictive pulmonary function
• Cardiac pathology secondary to compression
• Failed previous repair(s)

Key Considerations for Clinical Practice

• Comprehensive evaluation should include both physiological and psychological impacts
• Surgical decision-making should consider both objective measures (Haller index) and subjective symptoms
• In patients with connective tissue disorders, cardiac evaluation is particularly important
• The psychological impact of the deformity should not be underestimated in treatment planning