Is pectus excavatum hereditary?

Written by Zhang Zhi Gong
Cardiothoracic Surgery
Updated on September 04, 2024
00:00
00:00

Is pectus excavatum hereditary? According to modern genetic medicine, actually, about 80% of diseases are related to genetics to some extent, and pectus excavatum is no exception. Normally, pectus excavatum occurs in about one in 400 to 1000 people, with a higher prevalence in males. Research has also found that pectus excavatum is often seen in several genetic disorders, including Noonan syndrome, Turner syndrome, and Marfan syndrome. This indicates that it shares certain genes with these genetic disorders, such as the fibrillin-1 gene and others in the RAS/MAPK pathway. These genetic correlations may not always be evident, for example, the parents may not have pectus excavatum themselves. However, when parents with these recessive genes reproduce, their combination might result in pectus excavatum in their child. The development of pectus excavatum might be related to abnormal asymmetrical development of the cartilage. Thus, there is indeed a certain correlation between pectus excavatum and genetic factors.

Other Voices

doctor image
home-news-image
Written by Zhang Zhi Gong
Cardiothoracic Surgery
1min 32sec home-news-image

Harm of pectus excavatum

The dangers of pectus excavatum can generally be divided into two aspects: one is the harm to the physiological functions of the patient, and the other is the psychological impact on the patient. The physiological harm can be further divided into two categories: one is the impact on lung function, and the other is the impact on heart function. We can imagine that in normal individuals, the sternum is positioned in front of the heart and lungs. However, in patients with pectus excavatum, due to congenital hereditary or genetic factors, the sternum is pushed backward towards the spine, compressing inward and backward, which causes the heart to be squeezed, deformed, and the lungs to be compressed, preventing them from fully expanding. Thus, both the heart and lungs of the patient are subjected to certain pressures, affecting both cardiac and pulmonary functions. In addition to the impact on cardiopulmonary function, the patient's thoracic cage is deformed. It appears as if the center of the chest has been punched in. This kind of deformed chest affects the patient's social abilities, including interactions with potential boyfriends or girlfriends. Imagine, for instance, removing one's shirt at the pool in summer, attracting stares as if one were a monster. Therefore, patients may lack confidence, especially in romantic and social interactions, and some may even experience certain levels of depression or suicidal tendencies.

doctor image
home-news-image
Written by Zhang Zhi Gong
Cardiothoracic Surgery
1min 42sec home-news-image

Postoperative care for pectus excavatum

Pectus excavatum surgery involves implanting a metal plate in the patient's body; however, this type of metal plate cannot be welded to normal bones or muscles. It is only fixable using stainless steel wires or sutures. Therefore, postoperative care is crucial. Good post-surgical care significantly reduces the chances of the metal plate shifting. We recommend that patients lie flat on their backs for 3 to 5 days after the surgery, avoid bending, twisting their bodies, or rolling over in bed for a week. For a month, it's important for patients to keep their bodies straight and stand flush against a wall. Since the chest will be quite painful after the surgery, standing against a wall helps the patient maintain a proper posture. Otherwise, due to the pain, the patient may stoop forward, resulting in a hunched posture, which is unappealing and not good for the spine. Within two months post-surgery, the patient should avoid bending over to lift heavy objects as this can lead to uneven distribution of force that may cause the metal plate to shift. Intense physical activities should be avoided for three months. The patient should ideally rest in a supine position and avoid external injuries and contact or impact sports like basketball, soccer, or football. Generally, the metal plate should be removed 2 to 3 years after the surgery depending on the circumstances, so regular clinic visits are necessary to monitor the situation of the plate. If the patient experiences difficulty breathing or chest pain after being discharged from the hospital, they should immediately go to the nearest hospital to have their chest x-rayed to check the status of the metal plate.

doctor image
home-news-image
Written by Zhang Zhi Gong
Cardiothoracic Surgery
1min 6sec home-news-image

What should be noted in daily life for people with funnel chest?

Since pectus excavatum is an inward and backward depression, such a depression may gradually become apparent even from a young age, especially worsening during adolescence. Therefore, children or patients with this condition should be aware of any significant lack of calcium or vitamin D. Of course, since pectus excavatum may also be somewhat related to familial genetic factors, it is important to check whether the child has any congenital heart diseases, Noonan syndrome, or connective tissue disorders. Since pectus excavatum causes an inward and backward indentation that compresses the heart and lungs, children with this condition may not be able to fully expand their lungs or completely relax their hearts. Consequently, these children tend to have a weaker constitution and may catch colds easily. Therefore, children with pectus excavatum should avoid crowded places, as their weaker constitution makes them more susceptible to colds, which can exacerbate their developmental issues, thus creating a vicious cycle.

doctor image
home-news-image
Written by Zhang Zhi Gong
Cardiothoracic Surgery
52sec home-news-image

Is the funnel chest suction cup effective?

If the patient is young and the chest wall still retains some elasticity, or there is a possibility of secondary development, then it might be worth trying a pectus excavatum suction cup. If during the development of the chest wall, the patient's family can actively encourage or supervise the use of the suction cup for over two hours a day, continuing for six months, preferably up to about two years, the suction cup can be somewhat effective. However, if the patient's chest wall is hard and lacks elasticity, or if there is little possibility of further development, then the suction cup might not be suitable for such patients. For patients whose chest wall has fully developed, the best or most definitive treatment for pectus excavatum is surgery. Therefore, while the pectus excavatum suction cup can be useful for some patients, it is not suitable for all patients.

doctor image
home-news-image
Written by Zhang Zhi Gong
Cardiothoracic Surgery
1min 22sec home-news-image

Why can't people with funnel chest gain weight?

In clinical observations, we have found that children with pectus excavatum generally do not have as good nutrition as normal children, and are not as plump. This may be related to the deformity of the chest indentation. We know that the normal cross-section of the thorax on a CT scan is oval-shaped, with the heart and lungs located behind the sternum. In children with pectus excavatum, the sternum is compressed backward toward the spine, which deforms and even pushes the heart completely to one side. This compression of the heart limits the blood's ability to fully return to the heart, and may even prevent the valves from closing completely, leading to valve insufficiency. As a result, both cardiac and pulmonary functions are somewhat impaired. Therefore, 80% of children with pectus excavatum experience exercise intolerance, meaning they cannot run as well as normal children, which also indicates poorer physical fitness and, comparatively, a lesser appetite. Recent studies have found that children with pectus excavatum also have slightly weaker immune functions, and their digestive and absorption capabilities are not as good as those of typical children. Poor exercise capacity and digestive function ultimately lead to poorer nutrition in children with pectus excavatum, making them less plump than normal children.