Pectus Excavatum: Not Just a Cosmetic Concern

The exact cause of PEX is not known, but the primary theory centers around unbalanced overgrowth in the costochondral regions. One study showed that asymmetric PEX patients had shorter ribs on the more severely depressed side of the deformity. Up to 43% of PEX patients have a family history of the disease. It is thought to be a disease of multifactorial inheritance, and the exact genes implicated are unknown. PEX can be associated with scoliosis and connective tissue disorders such as Marfan syndrome , Ehlers-Danlos syndrome, and Noonan’s syndrome. “PEX is of particular concern. In addition to cosmetic considerations, it may result in cardiac compression and cardiopulmonary impairment,” says Dawn Jaroszewski, MD, cardiothoracic surgeon at Mayo Clinic in Arizona. “Although some patients are born with pectus, most notice development and significant progression of the deformity during rapid adolescent growth. This may be accompanied by onset or worsening of symptoms.” Sternal depression usually involves the lower sternum, with depression of the 4th through 7th costal cartilages. Varying degrees of rotation and asymmetry may be seen.