Is pectus excavatum hereditary?

Written by Zhang Zhi Gong
Cardiothoracic Surgery
Updated on February 02, 2025
00:00
00:00

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.

Other Voices

doctor image
home-news-image
Written by Zhang Zhi Gong
Cardiothoracic Surgery
1min 8sec home-news-image

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.

doctor image
home-news-image
Written by Zhang Zhi Gong
Cardiothoracic Surgery
1min 3sec home-news-image

Pectus excavatum causes

The etiology of pectus excavatum is not fully clear yet, but it has been found that the incidence of pectus excavatum greatly increases among patients with connective tissue diseases, possibly related to the disruption of the balance between growth genes and inhibitory genes affecting the cartilage on both sides of pectus excavatum. Moreover, it is also found that the complication of pectus excavatum significantly increases among patients with Marfan syndrome (also a type of connective tissue disease) and Noonan syndrome. In children with congenital airway stenosis and bronchopulmonary dysplasia, the incidence of pectus excavatum also significantly increases. This suggests that the causes of pectus excavatum are directly or indirectly related to genetics and heredity, and regardless, the causes of pectus excavatum, both acquired and congenital, are directly related to genes and heredity.

doctor image
home-news-image
Written by Zhang Zhi Gong
Cardiothoracic Surgery
52sec home-news-image

Is the funnel chest suction cup effective?

If the patient is young and the chest wall still retains some elasticity, or there is a possibility of secondary development, then it might be worth trying a pectus excavatum suction cup. If during the development of the chest wall, the patient's family can actively encourage or supervise the use of the suction cup for over two hours a day, continuing for six months, preferably up to about two years, the suction cup can be somewhat effective. However, if the patient's chest wall is hard and lacks elasticity, or if there is little possibility of further development, then the suction cup might not be suitable for such patients. For patients whose chest wall has fully developed, the best or most definitive treatment for pectus excavatum is surgery. Therefore, while the pectus excavatum suction cup can be useful for some patients, it is not suitable for all patients.

doctor image
home-news-image
Written by Zhang Zhi Gong
Cardiothoracic Surgery
1min 27sec home-news-image

How to exercise the pectoral muscles with pectus excavatum?

How to exercise the pectoral muscles with pectus excavatum, we know that the indentation of pectus excavatum is concave inward and backward, that is, the front sternum in the middle of a person's chest compresses backward towards the spine. Exercising the pectoralis major muscle aims to lift the muscles on both sides of the sternum, but the attachment point of the pectoralis major actually pulls from the ribs outward and upward towards the humeral tuberosity of the arms. This type of lifting actually pulls the force of the ribs or a part of the sternum outward, and it cannot pull forward. Indeed, the forward force is the direction truly needed when correcting pectus excavatum. Therefore, patients with pectus excavatum can exercise the pectoralis major, do push-ups, and perform dumbbell fly exercises, which are all feasible. However, such exercise will only make the pectoral muscles thicker and the force is directed sideways, and it cannot effectively pull the downward and inward-concaved sternum forward. Therefore, although individuals with pectus excavatum can perform exercises like push-ups and dumbbell flies like normal individuals, these exercises should not be expected to significantly improve pectus excavatum. Moreover, current medical technology and trials have not found exercising the pectoralis major to have a substantial corrective effect on pectus excavatum.

doctor image
home-news-image
Written by Zhang Zhi Gong
Cardiothoracic Surgery
53sec home-news-image

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.