Pectus Excavatum

Definition | Aetiology | Pathophysiology | Risk Factors | Signs and Symptoms | Investigations | Management | References

Definition

Pectus excavatum is a structural deformity of the anterior thoracic wall in which the sternum and rib cage grow abnormally, producing a concave, or caved-in, appearance of the chest. It is the most common congenital chest wall abnormality.

Aetiology

The exact cause of pectus excavatum is unknown, but it is believed to be due to abnormal growth of the costal cartilages, which push the sternum inward. It can occur as an isolated condition or as part of genetic syndromes such as Marfan syndrome or Ehlers-Danlos syndrome.

Pathophysiology

The pathophysiology of pectus excavatum involves:

• Abnormal growth of the costal cartilages.
• Inward displacement of the sternum.
• Compression of the heart and lungs, which can affect cardiovascular and respiratory function.
• Potential impact on exercise tolerance and physical appearance, leading to psychological distress.

Risk Factors

• Family history of pectus excavatum or other chest wall deformities
• Genetic syndromes such as Marfan syndrome or Ehlers-Danlos syndrome
• Male gender (more common in males than females)

Signs and Symptoms

The signs and symptoms of pectus excavatum include:

• Sunken appearance of the chest
• Shortness of breath, especially during exercise
• Chest pain
• Heart palpitations
• Fatigue
• Reduced exercise tolerance
• Psychological distress due to cosmetic appearance

Investigations

Specific investigations to diagnose pectus excavatum include:

• Clinical examination: Physical inspection of the chest.
• Imaging studies: Chest X-ray, CT scan, or MRI to assess the severity and impact on internal organs.
• Echocardiography: To evaluate cardiac function and detect any compression effects on the heart.
• Pulmonary function tests: To assess the impact on lung function.

Management

Primary Care Management

• Observation: In mild cases, especially if the patient is asymptomatic, observation and regular follow-up may be sufficient.
• Physiotherapy: Exercises to improve posture and strengthen the chest wall muscles.
• Psychological support: For patients experiencing distress due to the cosmetic appearance.

Specialist Management

• Surgical intervention: For moderate to severe cases or those with significant symptoms, surgical correction may be indicated. Procedures include:
  • Nuss procedure: Minimally invasive repair involving the insertion of a curved metal bar to elevate the sternum.
  • Ravitch procedure: An open surgical technique that involves resection of abnormal cartilages and repositioning of the sternum.
• Postoperative care: Pain management, physiotherapy, and follow-up to monitor for complications and ensure proper healing.

References

1. NHS (2024) Pectus excavatum. Available at: https://www.nhs.uk/conditions/pectus-excavatum/ (Accessed: 24 June 2024).
2. American Thoracic Society (2024) Pectus Excavatum. Available at: https://www.thoracic.org/patients/patient-resources/resources/pectus-excavatum.pdf (Accessed: 24 June 2024).
3. British Medical Journal (2024) Pectus excavatum: clinical features, diagnosis, and management. Available at: https://www.bmj.com/content/350/bmj.h2467 (Accessed: 24 June 2024).
4. Ravitch, M.M. (1956) 'The Operative Treatment of Pectus Excavatum', Annals of Surgery, 143(5), pp. 577-583.

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