Pectus Carinatum

What is Pectus Carinatum?

Pectus Carinatum is characterized by a protruding sternum. It is a rare birth defect that affects more males than females, and the exact cause is not clear. It is thought to be caused by a cartilage disorder, and it can be genetic. It has also been linked to the connective tissue disorder known as Marfan syndrome.

Pectus carinatum can become more apparent at puberty, but in most cases it is merely cosmetic. Kids can be very self-conscious, and they want to look like their friends. However, for some pectus carinatum affects more than just appearance. It can cause complications that may require treatment.

What are the Symptoms of Pectus Carinatum?

The symptoms of pectus carinatum vary from one person to the next. When complications occur they may include:

  • Chest pain
  • Breathing difficulties
  • Lethargy
  • Fast heartbeat

Pectus Carinatum Causes

It isn’t clear what causes pectus carinatum, but it appears to be linked to an overgrowth of cartilage in the rib cage. It isn’t clear why this happens, but there seems to be a genetic link in some cases.

For around a quarter of people with pectus carinatum, someone else in their immediate family has the same condition. This suggests that there could be a specific genetic trait which can be inherited. However, since only a proportion of pectus carinatum cases seem to be hereditary, experts have had trouble establishing exactly what that genetic trait is.

In some cases, pectus carinatum can occur as a symptom of another medical disorder or syndrome, such as:

  • Homocystrinuria (a condition which affects the metabolism of methionine, an amino acid)
  • LEOPARD syndrome (a disorder which affects normal appearance and function of the skin, face and heart)
  • Marfan syndrome (a connective tissue disorder)
  • Morquio syndrome (a mocopolysaccharidose disease which affects the metabolism of sugar molecule chains)
  • Osteogenesis imperfecta (a condition which causes very fragile bones)
  • Trisomy 18 or trisomy 21 (the presence of a third copy of chromosomes 18 or 21)

How is Pectus Carinatum Treated?

Pectus carinatum is usually diagnosed through x-rays, and in some cases it also requires a CT scan or an MRI. Those with symptoms may also have to undergo an echocardiogram and/or an electrocardiogram. Treatment options may include bracing for at least eight hours each day and/or surgery to correct the protrusion.  Bracing is usually tried first when a child is still growing. Pectus carinatum surgery involves the removal of abnormal cartilage and repositioning of the sternum.

Pectus Carinatum Prevention

Unfortunately, pectus carinatum cannot be prevented. However, it may be possible to prevent complications arising from the condition by undergoing treatment.

Surgery and the use of back braces is often used to treat the more severe cases of pectus carinatum. These may be particularly useful if the condition seems to be affecting normal function of the heart or lungs. Back braces tend to be most effective when used on children and adolescents.

Psychological interventions may be necessary to prevent the development of mental health disorders in those with pectus carinatum. Patients may have low self-esteem and confidence due to the appearance of their chest, and counseling may therefore help them to come to terms with the condition.

Last Reviewed:
October 07, 2016
Last Updated:
December 21, 2017