Pectus excavatum
| Pectus excavatum | |
|---|---|
 |
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| An example of a severe case | |
| Classification and external resources | |
| Specialty | Orthopedics |
| ICD-10 | Q67.6 |
| ICD-9-CM | 754.81 |
| OMIM | 169300 |
| DiseasesDB | 29401 |
| MedlinePlus | 003320 |
| eMedicine | ped/2558 |
| MeSH | D005660 |
Pectus excavatum is a congenital deformity of the anterior thoracic wall in which the sternum and rib cage grow abnormally. This produces a caved-in or sunken appearance of the chest. It can either be present at birth or not develop until puberty.
Pectus excavatum is sometimes considered to be cosmetic but depending on the severity, it can impair cardiac and respiratory function and cause pain in the chest and back. People with the condition may experience negative psychosocial effects, and avoid activities that expose the chest.
Pectus excavatum is from Latin meaning hollowed chest. It is sometimes referred to as cobbler's chest or funnel chest.
The hallmark of the condition is a sunken appearance of the sternum. The most common form is a cup-shaped concavity, involving the lower end of the sternum; also a broader concavity involving the upper costal cartilages is possible. The lower-most ribs may protrude ("flared ribs"). Pectus excavatum defects may be symmetric or asymmetric.
Patients may also experience chest and back pain, which is usually of musculoskeletal origin.
In mild cases, cardiorespiratory function is normal, although the heart can be displaced and/or rotated. In severe cases, mitral valve prolapse may be present and physical capability may be limited due to base lung capacity being decreased.
Psychological symptoms manifest with feelings of embarrassment, social anxiety, shame, limited capacity for activities and communication, negativity, intolerance, frustration, and even depression.
Researchers are unsure of the cause of pectus excavatum but assume that there is a genetic component for at least some of the cases. Approximately 37% of individuals with pectus excavatum have a first degree family member with the condition. A number of genetic markers for pectus excavatum have also been discovered. Physiologically, increased pressure in utero, rickets and increased traction on the sternum due to abnormalities of the diaphragm have been postulated as specific mechanisms.
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