Pectus Excavatum (funnel chest) is a birth defect that is characterized by a recessed breastbone. It can be mild and barely noticeable to severe, and it can worsen at puberty when grow spurts occur. In the most serious of cases it appears as if the middle of the chest was scooped away. The exact cause is unknown, but it can be hereditary and strikes more boys than girls.
It is thought to be a result of abnormal connective tissue growth. It can be found in conjunction with other conditions including Marfan syndrome, scoliosis and rickets. Funnel chest is usually a harmless condition. However, in the most serious cases it can push the heart into the left chest wall. It can also cause complications that require treatment.
The symptoms of pectus excavatum vary in severity from one person to the next, but it may include:
It isn’t completely clear what causes pectus excavatum, but it appears that there could be a genetic cause. Around a quarter of affected individuals have family members with similar abnormalities to the chest wall, which suggests that certain genetic traits could be to blame.
Some instances of pectus excavatum occur alongside or as a symptom of other medical disorders or syndromes. Scoliosis and kyphosis (curvatures of the spine), which are also skeletal malformations, are commonly experienced with pectus excavatum. Marfan syndrome and other connective tissue disorders can also affect those with pectus excavatum.
However, the vast majority of people with pectus excavatum have no other concurrent medical conditions. If no family history of the condition is present, the cause could simply be an imbalanced growth of the ribs and sternum. Since the deformity seems to become more prominent after growth spurts, this explanation seems likely, but it is not understood why this imbalanced growth affects some people and not others.
After diagnosis through a physical exam, heart tests, lung tests and imaging, treatment may include minimally invasive surgery to elevate and support the breastbone. Although it comes with risks as any surgery does, the prognosis is good in regards to both health and physical appearance.
There is no way to prevent pectus excavatum, but it may be possible to prevent complications of the disorder. For many people with the condition, physical complications are rare, but when the deformity is very severe it can affect normal function of the heart and lungs.
In these instances, surgery may be considered to reduce the severity of the deformity. Surgery should not be performed until after puberty when growth spurts are common; performing it beforehand could result in the deformity recurring as the child grows.
Psychological interventions might be considered to prevent pectus excavatum affecting the mental wellbeing of patients. They may experience low self-esteem and confidence or feel ostracized or cut off from others. Counseling may help them to come to terms with their condition, work through anxieties about their appearance and reduce the risk of negative emotions or thought processes affecting their mental health.