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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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.

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Written by Zhang Zhi Gong
Cardiothoracic Surgery
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Funnel chest surgery principle

The Wang procedure, named after Director Wang Wenlin from the Second People's Hospital of Guangdong Province, is a surgical method for correcting pectus excavatum. Traditional minimally invasive techniques for correcting pectus excavatum, such as the Nuss procedure or its modifications, involve placing a metal bar under or behind the sternum, forming an arch to lift the depressed area, similar to a traditional arch bridge. In contrast, the Wang procedure positions the metal bar on top and in front of the sunken sternum, and then uses stainless steel wires to suspend the deformed sternum forward and upward, transforming the traditional arch into a modern cable-stayed bridge, thus suspending the depressed chest area.

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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.

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Written by Zhang Zhi Gong
Cardiothoracic Surgery
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Harm of funnel chest suction cup

Recently, the use of vacuum bells for pectus excavatum has become very common in China, and their promotion has been very aggressive. However, for children using these devices, it's important to be cautious since they have pectus excavatum, a congenital deformity where the sternum is sunken inward and backward. One must ensure these patients do not have congenital heart diseases. If the patient also suffers from congenital heart defects like atrial septal defect, ventricular septal defect, or patent ductus arteriosus, using the vacuum bell to forcefully pull out the sunken sternum might lead to deformation of the heart and worsen the septal defects. Therefore, before using the vacuum bell, it is essential to rule out the possibility of congenital heart diseases in patients, which can be done through an echocardiogram. Secondly, using the vacuum bell with excessive force might cause bruising and capillary bleeding in the patient’s skin.

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Written by Zhang Zhi Gong
Cardiothoracic Surgery
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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.