A 16-year-old boy comes to his outpatient provider for evaluation of exercise intolerance. His symptoms have been ongoing for many years but have recently become more bothersome after he started playing soccer for his high school team. He fatigues more easily than his friends and cannot keep up with them during matches. The patient also experiences frequent bruising after minor falls. Family history is noncontributory. In the office, his temperature is 37.1°C (98.8°F), blood pressure is 108/73 mmHg, pulse is 65/min, and respiratory rate is 15/min. Physical examination reveals hyperelastic skin, hypermobile joints and multiple bruises over the bilateral lower extremities. Examination of the chest reveals the following finding: Image reproduced from '>Wikimedia Commons Which of the following is the most likely underlying etiology of this patient’s symptoms?

Congenital defect in fibrillin glycoprotein

Reduced levels of clotting factor VIII

Reversed positioning of major visceral organs

Reduced synthesis of type I collagen

Pectus excavatum

Foundational SciencesPathologyMusculoskeletal systemCongenital disorders

Organ SystemsMusculoskeletal systemPathologyCongenital disorders

Definitions & Key takeaways

Pectus excavatum is a congenital deformity of the anterior wall of the chest, in which several ribs and the sternum grow abnormally. This produces a caved-in or sunken appearance of the chest. It can either be present at birth or develop in puberty. People with pectus excavatum can also present with chest pain, difficulty breathing, and fatigue. Treatment options for pectus excavatum include observation, bracing, and surgery.

Pectus excavatum

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