Causes
Researchers are currently unsure as to the actual cause of pectus excavatum but hypothesize genetic defect. Approximately 37% of individuals with pectus excavatum have a first degree family member with the condition. Physiologically, increased pressure in utero, rickets and increased traction on the sternum due to abnormalities of the diaphragm have been postulated as specific mechanisms. Pectus excavatum is also a relatively common symptom of Marfan syndrome. Many children with spinal muscular atrophy develop pectus excavatum due to the diaphragmatic breathing that is common with the disease. Pectus excavatum also occurs in about 1% of persons diagnosed with Celiac disease for unknown reasons.
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