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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Written by Zhang Zhi Gong
Cardiothoracic Surgery
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Is pectus excavatum scary?

Is pectus excavatum scary? In a normal person, the thoracic transverse diameter and anteroposterior diameter have a normal ratio. For example, in normal individuals, this ratio of the transverse diameter to the anteroposterior diameter is less than 2.5. However, some children, due to congenital or acquired reasons, may have a sternum that is concave inward in the middle. In such cases, the concavity of the sternum significantly reduces the anteroposterior diameter, and the ratio of the transverse to anteroposterior diameter then becomes greater than 2.5. For pectus excavatum where the ratio is between 2.5 and 3.5, we suggest conservative treatment or observation, and a pectus excavatum suction cup can be used. If the ratio is greater than 3.5, the pectus excavatum is very pronounced, and we recommend surgical treatment. In severe cases of pectus excavatum, where the ratio of the transverse to anteroposterior diameter is greater than 4, there are instances where the chest is almost touching the back, with only a few millimeters of space between the anterior chest wall and the spine during surgery. In such severe cases, the heart is completely pushed to the left side of the patient, significantly affecting both cardiac and pulmonary function, impacting the patient’s physical development. In severe cases, it can also cause significant psychological issues, including severe feelings of inferiority, lack of self-confidence, poor social skills, and even severe depression or suicidal tendencies. Therefore, severe pectus excavatum can indeed be quite frightening.

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Written by Zhang Zhi Gong
Cardiothoracic Surgery
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Can people with funnel chest gain weight?

The majority of pectus excavatum cases encountered clinically are congenital thoracic deformities, which means the sternum in the middle of the chest is indented inward and backward. This inward and backward indentation can compress the lungs and the heart, especially in severe cases of pectus excavatum, causing significant compression to the lungs and heart. It prevents the heart from fully expanding, and might even push the entire heart into the left chest cavity, also preventing the lungs from effectively expanding. Therefore, children with this condition tend to have weaker constitutions, are prone to colds, and their ability to engage in physical activities like running is not as good as other children. Pectus excavatum generally affects the development of children, especially in severe cases. Mild pectus excavatum involves only a slight indentation and does not severely compress the heart, and children with such a condition can still gain weight if their nutrition is adequate. However, in severe cases of pectus excavatum, besides impacting the heart and lungs, it can also affect the patient's personality, self-confidence, and social interactions, potentially leading to insecurity, depression, and even suicidal tendencies.

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Written by Zhang Zhi Gong
Cardiothoracic Surgery
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Pectus excavatum should see which department?

If the patient is relatively young, under 14 years old, and wishes to consult about pectus excavatum care, pediatric healthcare can be considered. However, if the patient is older, or in addition to pediatric healthcare advice, seeks information on how to treat pectus excavatum, it is advisable to consult with a local thoracic surgery department, if available. This is because thoracic surgeons offer not only information on the causes or care of pectus excavatum but also treatment options. Both conservative treatment plans and surgical interventions are available from thoracic surgeons. Of course, not all hospitals have a department of thoracic surgery, but general top-tier hospitals typically do; if there is no thoracic surgery available locally, considering general surgery might be the only alternative.

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Written by Zhang Zhi Gong
Cardiothoracic Surgery
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Best age for pectus excavatum surgery

The best age for funnel chest surgery, according to the latest and most authoritative ninth edition of the surgical textbook, is between three and five years old. Historically, there has been controversy over the best age for funnel chest surgery, with some pediatricians previously believing it should wait until adolescence. However, it has been found that by the age of five, children start to become more aware and might realize their chest shape differs from others, potentially leading to feelings of inferiority and reluctance to make friends. Thus, performing the surgery before the age of five—before the child is fully aware of their deformity—might actually be preferable, as it could minimize psychological and physiological impacts. Of course, there is also a viewpoint supporting surgery before the age of three, but the younger the child, the softer the chest bone, which sometimes allows for other potential corrective methods.

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Written by Zhang Zhi Gong
Cardiothoracic Surgery
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Pectus Excavatum should visit which department?

Pectus excavatum should be consulted with which department? Pectus excavatum is a type of congenital chest wall deformity, accounting for over 90% of all anterior chest wall deformities, and is primarily characterized by a depression in the middle of the chest wall that sinks inward and backward. As it is a congenital deformity, it can be noticed in children soon after birth, around the age of three to five, especially during bathing. This deformity may worsen with the patient's age, so you might consider consulting the pediatric health department. However, this indentation usually intensifies during puberty, and the pediatric health department primarily provides consultation services. If you seek a comprehensive assessment and treatment for pectus excavatum, you should consult the thoracic surgery department, which offers a range of treatments from surgical to non-surgical methods. Therefore, it is recommended to first consult the thoracic surgery department, followed by the pediatric health department.