Causes of Pectus Excavatum

Written by Zhang Zhi Gong
Cardiothoracic Surgery
Updated on September 01, 2024
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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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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.

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Written by Zhang Zhi Gong
Cardiothoracic Surgery
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Can funnel chest heal itself?

Actually, a portion of children with pectus excavatum can heal on their own, especially those who are newly born and discovered to have pectus excavatum. This is because children are curled up while in the mother's womb. In some cases, their hands and feet might be placed in front of the sternum, pressing it backward and inward, causing a deformity. However, once the mother gives birth and the child's limbs unfold, the pressure on the sternum is relieved. As the chest grows, it gradually returns to its normal shape, and these children with pectus excavatum can be cured. On the other hand, another group of patients do not have pectus excavatum at birth, but develop a noticeable chest indentation as they grow older. These patients, when they are young, can also be treated with conservative methods, such as using a vacuum bell for pectus excavatum to gradually draw the indentation outward. With its stabilizing effect, as the child grows, the deformity can be slowly corrected. Of course, there are also children who might have a more rapid skeletal development, and essentially become "set" in their ways. At this stage, they may require surgical intervention to treat the condition. In summary, a portion of pectus excavatum patients can be healed, while another portion requires active intervention and treatment.

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

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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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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What should be noted for pectus excavatum?

We know that behind the sternum of a normal person are the heart and lungs. Pectus excavatum is a deformity where this part of the sternum is pressed inward towards the spine. Such inward compression, as it occurs right against the bony spine, will directly squeeze the heart and in severe cases, can lead to insufficiency in the heart valve closure. Therefore, the most critical issue with pectus excavatum is the compression of the heart, which also compresses the lungs. Thus, 80% of children with pectus excavatum have lower exercise capacity compared to normal children, 60% may experience chest pain, and 40% have a significantly higher respiratory rate than normal children. Therefore, for patients with pectus excavatum, it is crucial to be cautious about common colds, as their respiratory and cardiac functions can be greatly affected if they catch a cold.