Is pectus excavatum hereditary?

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

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Postoperative complications of pectus excavatum surgery

In theory, if the pectus excavatum surgery is successful, there won't be many long-term complications. However, if we have to discuss possible complications or side effects, they can be categorized as either short-term or long-term. For instance, pectus excavatum itself involves the inward and backward indentation of the sternum, which compresses the patient's heart and lungs. The surgery corrects this by pushing or suspending the indented sternum forward. Due to the alteration in the shape and appearance of the bones, the patient may experience some pain post-surgery, but this pain is bearable and usually subsides within three to five days. Particularly in younger children, who have softer bones, normal activities can often be resumed in just a day or two. However, as age increases and bones become harder, patients may feel pain for about three to five days to a week post-surgery, but typically return to normal after a week. Additionally, there might be complications such as pneumothorax, pleural effusion, or even severe cardiac damage. However, these are generally problems that arise from unsuccessful operations or issues that can be resolved in the short term. Therefore, in the long term or over an extended period, there are generally no lasting side effects from pectus excavatum surgery. If there has to be mention of any, it would be the surgical scars left under the armpits, typically one to two scars each measuring 1 to 2 centimeters.

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What should be noted for pectus excavatum in daily life?

The biggest difference between children with pectus excavatum and normal children lies in the middle chest bone structure sinking backwards and inward toward the spine, creating a deformity where the front chest and the back compress each other. Naturally, this completely compresses the normal position of the heart and lungs. Therefore, the heart of such children is compressed and deformed, pushing the entire heart to one side. We have encountered clinically cases where there are just a few millimeters of space between the sternum and the spine, leaving no room for the heart, thus completely compressing and pushing it to the left side. Imagine a heart, completely compressed and deformed, where the valves inside cannot function normally. Hence, some children may exhibit insufficiencies in their tricuspid and mitral valves. Therefore, in children with pectus excavatum, their heart is under pressure, their valves deformed, leading to poor cardiac function, and their lung function is also compromised. Since the lungs also need space to expand, lungs that are completely compressed cannot fully relax, resulting in such children having poor cardiac and lung functions, reduced exercise endurance, and since the lungs cannot fully expand, such children are prone to catching colds. Thus, for children with pectus excavatum, it is important to avoid catching colds. Moreover, treating the root cause of the condition, which is pectus excavatum itself, is crucial. Therefore, correcting pectus excavatum early on is essential.

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Does pectus excavatum hurt?

The sternum of pectus excavatum caves inward and backward, directly compressing the patient's heart or lungs, causing a certain degree of chest pain. This chest pain is not caused by pectus excavatum itself, but by the compression of the heart or lungs due to pectus excavatum. Imagine a normal ribcage as an oval shape; its cross-section is also oval and is a ratio of the patient's left-right diameter, transverse diameter, and anterior-posterior diameter. In normal individuals, this ratio is less than 2.5. In pectus excavatum, since the anterior-posterior diameter is significantly reduced and the sternum is markedly pressed towards the spine, the patient's heart is entirely compressed and deformed. Therefore, the patient's coronary arteries or valves may be squeezed and deformed, resulting in about 60% of pectus excavatum patients experiencing chest pain.

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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.

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Can people with funnel chest work?

Whether pectus excavatum can affect work depends on two aspects. Firstly, if it is a mild case of pectus excavatum, with an index less than 3.25, such mild conditions do not cause significant compression on the heart or lungs, and the patient will not have too many work-related issues. However, if the pectus excavatum index is greater than 3.25 and the chest is sunken inward and backward, significantly compressing the heart and lungs, such a condition prevents the heart from fully relaxing and the lungs from fully expanding, which can impact the patient's activities. Besides the physiological impact, this condition can also significantly affect social interactions, especially for young children or adults. Some patients may suffer severe inferiority complexes, depression, and even suicidal tendencies, which, of course, will also affect their work capability and state. Therefore, for severe cases of pectus excavatum, it is recommended to wait until after treatment to return to work. Once the pectus excavatum is corrected, and the heart and lung functions are no longer compressed, and the appearance is normalized, the patient's work capability should be completely fine.