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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Minimally invasive surgery for pectus excavatum

Pectus excavatum minimally invasive surgery currently comes in two varieties. The first resembles a variation of the traditional Nuss procedure, which involves making a small incision under the patient's armpit and inserting a pre-shaped trapezoidal steel plate through this small hole to the back of the depressed breastbone. The steel plate is then flipped to push out the depression. Because it requires only a one to two centimeter incision on the patient, it is considered much less invasive compared to the traditional Nuss procedure which requires two incisions. There is also another type of minimally invasive surgery which involves bilateral incisions but does not require flipping the steel plate, thus avoiding damage associated with flipping and muscle disruption between the ribs. This is also considered a current minimally invasive surgical technique. Additionally, there is the recent Wang procedure, which is also minimally invasive, requiring only one incision and not necessitating access behind the breastbone. However, it is generally suitable only for younger patients with softer breastbones. For older adults, the Wang procedure might not be appropriate and further observation is required.

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Written by Zhang Zhi Gong
Cardiothoracic Surgery
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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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Written by Zhang Zhi Gong
Cardiothoracic Surgery
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Can funnel chest be cured?

In fact, many diseases cannot be completely cured, including the common cold, for which there is currently no way to completely eradicate it, meaning there isn't a medicine that, once taken, prevents one from ever catching a cold again. Of course, this has a lot to do with the mutations of the cold virus. However, pectus excavatum can be cured, and there are generally two methods of treatment for it: surgical and non-surgical. The surgical method is suitable for older patients with harder bones. Conservative treatment is appropriate for younger patients with more elastic rib cages, who can cooperate well, or whose family can supervise and support them through this non-surgical approach. Regardless, it is completely possible to cure pectus excavatum, and there are methods to do so.

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

Regarding the registration of patients or children with pectus excavatum, if it is for children and the consultation is only about the hereditary aspect of pectus excavatum or its etiology, consider registering at the pediatrics or child health department. It is also feasible to consult the genetics department. If the consultation is about treatment options for pectus excavatum, including methods of treatment, consider registering at the thoracic surgery department. Thoracic surgery can provide advice and methods for the treatment of pectus excavatum, including both surgical and non-surgical options. Of course, not all hospitals have a thoracic surgery department; generally, municipal third-level, first-class hospitals are equipped with thoracic surgery departments. If there is no thoracic surgery available, consider registering under the general surgery 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.