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What is the cause of pectus excavatum?
DefinitionPectus excavatum describes an abnormal formation of the rib cage that gives the chest a caved-in or sunken appearance.Alternative NamesFunnel chestConsiderationsPectus excavatum is a congenital (present at birth) abnormality that can be mild or severe. It usually develops during pregnancy.It is caused by too much growth of the connective tissue that joins the ribs to the breastbone. This causes the sternum to malform inward. The child typically has a depression in the center of the chest over the sternum, and this may appear quite deep.If pectus excavatum is severe, it may affect the heart and lungs, making exercise difficult. Also, the appearance of the chest may cause psychological difficulty for the child.Pectus excavatum may occur as the only abnormality, or together with other syndromes. Often, patients also have a heart problem called mitral valve prolapse.Common CausesPectus excavatum will often occur by itself without any family history or other defects or problems. Other causes include:Familial pectus excavatumMarfan syndromePoland syndromeRicketsScoliosisCall your health care provider ifContact your health care provider if:You develop chest painYou develop trouble breathingYou feel depressed or angry about your conditionYou notice decreased exercise toleranceYou notice redness, swelling, or discharge from the areaWhat to expect at your health care provider's officeYour health care provider will perform a physical examination. An infant with pectus excavatum may have other symptoms and signs that, when taken together, define a specific syndrome or condition.The health care provider will also ask questions about you or your child's medical history, such as:When did you first notice this?Is it getting better, worse, or staying the same?Have any other family members had an unusual-shaped chest?What other symptoms are there?Tests may be done to rule out suspected disorders. These tests may include:Chromosome studiesEnzymeassaysMetabolic studiesX-raysPulmonary or cardiac function tests may be done to determine how severely the lungs and heart are affected.This condition can be surgically repaired. Surgery is generally advised if you have other problems, such as trouble exercising. In addition, some people undergo surgery for cosmetic reasons. Your health care provider can help you make decisions about your therapy.ReferencesSugarbaker DJ, Lukanich JM. Chest wall and pleura. In: Townsend CM Jr., Beauchamp RD, Evers BM, Mattox KL. Sabiston Textbook of Surgery. 18th ed. Philadelphia, Pa: Saunders Elsevier; 2008:chap 57.Tzelepis GE, McCool FD. The lungs and chest wall disease. In: Mason RJ, Broaddus VC, Martin TR, et al, eds.Murray and Nadel's Textbook of Respiratory Medicine. 5th ed.Philadelphia,Pa: Saunders Elsevier; 2010:chap 88.Reviewed ByReview Date: 12/12/2011David C. Dugdale, III, MD, Professor of Medicine, Division of General Medicine, Department of Medicine, University of Washington School of Medicine; and Denis Hadjiliadis, MD, Assistant Professor of Medicine, Division of Pulmonary, Allergy and Critical Care, University of Pennsylvania, Philadelphia, PA. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.
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