Is pectus excavatum hereditary?

Written by Zhang Zhi Gong
Cardiothoracic Surgery
Updated on February 02, 2025
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In current medical technology, although no genes exclusively associated with pectus excavatum have been identified, there is evidence suggesting genetic predisposition when pectus excavatum coincides with other conditions. For instance, the incidence of pectus excavatum is significantly higher in patients with congenital connective tissue disorders, such as Marfan Syndrome, and is linked to certain genes within this syndrome. Additionally, patients with congenital diaphragmatic hernia also show an increased incidence of pectus excavatum. Moreover, the condition is more prevalent in patients, or children, who have subglottic airway stenosis or congenital bronchopulmonary dysplasia. Thus, these evidences confirm that pectus excavatum, as a disease in itself, is directly or indirectly related to congenital genetic factors, indicating a certain hereditary nature.

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Written by Zhang Zhi Gong
Cardiothoracic Surgery
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Does pectus excavatum require surgery?

The decision on whether surgery is needed for pectus excavatum depends on the patient's age, the severity of the deformity, and the elasticity of the chest wall. If the patient is very young, under one year old, and the pectus excavatum is not very severe, we recommend a watchful waiting approach. In patients with pectus excavatum under one year old, it is possible that the condition is pseudopectus excavatum, which may improve as they grow and develop within the first year. However, not everyone improves, with about one third of the cases showing improvement within the first year. If the child is older than one year, the likelihood of improvement is basically none, and at this time, conservative treatment using a pectus excavatum suction cup can be considered. If adhered to effectively, the suction cup can have a certain effect for some patients with pectus excavatum. But if the patient is over three to five years old and the chest wall has matured, surgery should be considered. Therefore, for the vast majority of patients with pectus excavatum, surgery is a relatively definitive and immediately effective method.

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Written by Zhang Zhi Gong
Cardiothoracic Surgery
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How to exercise to correct pectus excavatum

Pectus excavatum refers to the inward and backward indentation of the sternum, a deformity that can compress the patient's heart and lungs. To exercise for pectus excavatum, patients are advised to practice deep breathing exercises to enhance lung function, as well as engage in appropriate running and routine physical activities to strengthen heart function. However, in cases of severe pectus excavatum which severely compresses the heart, even pushing it entirely to the left side, patients may not be able to tolerate running and other intense activities. Therefore, it is quite difficult to completely correct pectus excavatum through exercise alone. Some parents might think that doing push-ups can correct pectus excavatum, but push-ups make the pectoral muscles on both sides stronger, and since these muscles pull outward, the force is not directed in the same way as the inward and backward indentation of pectus excavatum. Furthermore, continuously training the pectoral muscles causes them to develop, and the resultant thickening of the muscles on both sides can exacerbate the inward and backward indentation of the sternum in the middle. Thus, after appropriate cardiovascular and pulmonary exercises, those with severe pectus excavatum should still consult a doctor for active advice and consider surgical treatment options.

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Written by Zhang Zhi Gong
Cardiothoracic Surgery
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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.

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Cardiothoracic Surgery
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Causes of Pectus Excavatum

Although current medicine has developed to the molecular and genetic levels, the true causes of many modern diseases are still not completely clear, which includes pectus excavatum. There have been medical cases indicating that scientists have never ceased to explore the causes of pectus excavatum. It was once believed by early medical scientists that pectus excavatum might be caused by the inward and backward pulling of the sternum by the diaphragm. Therefore, for a period, the treatment for pectus excavatum involved releasing adhesions of the diaphragm, but this method was later found to be ineffective for children and was abandoned. Subsequently, it was discovered that pectus excavatum is somewhat related to the genetics of many families, such as those with Marfan syndrome (an autosomal dominant hereditary connective tissue disorder) and Noonan syndrome (a genetic disorder caused by mutations). However, no definitive pathogenic genes have been identified in families with sporadic cases of pectus excavatum. In summary, pectus excavatum is currently believed to be possibly caused by factors such as the development of rib cartilage on both sides, genetics, and other acquired conditions, like underdeveloped laryngeal cartilage or post-surgical factors from congenital diaphragmatic hernia repair. Overall, the causes of pectus excavatum are still actively being explored by medical scientists.

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Written by Zhang Zhi Gong
Cardiothoracic Surgery
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Minimally invasive surgery for pectus excavatum

Minimally invasive surgery for pectus excavatum has evolved over the decades, with various surgical methods developing since the most classical NUSS procedure introduced by Donald Nuss in the 1990s. His basic surgical process involves administering general anesthesia to the patient, who is then laid flat on the operating table. A horizontal line is drawn from the deepest part of the depression to the armpit, where one to two small incisions are made under the armpit. The skin is then freed to access the chest cavity, and a steel plate is gradually inserted behind the sternum at its deepest point, after which the depressed sternum is elevated by flipping the plate. Of course, there have been improvements to the NUSS procedure, such as the modified Nuss procedure that reduces the flipping process, thus minimizing the impact and damage to the bones. For instance, ultra-minimally invasive surgeries, which require only a single-port incision, have evolved from the NUSS procedure by reducing or eliminating the need for flipping or an incision. Later, the Wang procedure involved placing the steel plate in front of the sternum, using the principle of a suspension bridge to elevate the depressed sternum. Thus, the evolution of surgery for pectus excavatum continues to advance, with the surgical processes improving, wounds becoming smaller, and the number of incisions decreasing.