Pectus excavatum

Pectus excavatum is a congenital chest wall deformity characterized by a depression of the anterior chest wall, specifically the sternum and lower costal cartilages.

The cause of pectus excavatum is unknown, but a genetic predisposition is suggested, with a positive family history reported in up to 54% of cases. The pathophysiology involves an imbalance in the growth of the rib cage and sternum, often associated with connective tissue disorders, leading to a depression of the sternum.

Pectus excavatum is the most common congenital chest wall deformity in the world, with a reported prevalence of 8 per 1,000 live births and a male-to-female ratio of 5:1.

Risk factors for pectus excavatum include a family history of the condition, male gender, and certain connective tissue disorders, such as Marfan syndrome, Ehlers-Danlos syndrome, and osteogenesis imperfecta. Other associated conditions include Turner syndrome, Loeys-Dietz syndrome, fragile X syndrome, Pierre Robin syndrome, Noonan's syndrome, neurofibromatosis type 1, multiple endocrine neoplasia type 2b, spinal muscular atrophy, and prune belly syndrome.

Pectus excavatum can be asymptomatic, but depending on the severity, it can present with shortness of breath, exercise intolerance, poor endurance, and cardiac compression, particularly during adolescence when growth spurts occur. Physical and psychological symptoms, such as precordial pain after exercise, impairments of pulmonary and cardiac function, and social isolation, occur in severe cases.