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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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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Can funnel chest heal itself?

Most parents and doctors hope that funnel chest can heal on its own, but the truth is that most cases of funnel chest cannot heal spontaneously. Imagine if it's a small sapling that has grown crooked from a young age, already deformed, with the sternum indenting inward and backward. As the chest continues to grow, especially during puberty, the funnel chest will become more and more pronounced. Just like a crooked sapling, if it is not corrected, as it grows, the indentation and deformity will become more prominent. Of course, there is an exception. Some children are found to have funnel chest within the first year after birth, which may be due to the pressure on the sternum from the arms and legs during pregnancy while in the mother's womb. We know that children are curled up in the womb, and this positioning of the arms and legs in front of the chest can also cause compression of the chest cavity, leading to an inward deformity of the sternum. However, after birth, as the arms and legs stretch out and the pressure causing the indentation on the chest is relieved, the deformity of the indented sternum may gradually improve. However, most cases occur before the age of one, and the likelihood of this happening decreases significantly after one year of age.

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Written by Zhang Zhi Gong
Cardiothoracic Surgery
1min 11sec home-news-image

Is pectus excavatum hereditary?

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
1min 44sec home-news-image

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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Pectus excavatum is caused by what?

The specific etiology of pectus excavatum is not completely clear, but there are mainly two types of pectus excavatum: the simple type and the complex type, which means it is accompanied by other diseases. Currently, pectus excavatum is somewhat related to congenital genetic inheritance. This is because pectus excavatum is related to many connective tissue disorders, and many patients with congenital diaphragmatic hernias, psychogenic subglottic stenosis, and underdeveloped bronchopulmonary tissues also present with pectus excavatum. Although these diseases do not directly cause pectus excavatum, the reasons for the development of pectus excavatum, whether directly related to connective tissue disorders or not, are somewhat related to genetic factors. Therefore, it is currently considered that pectus excavatum is caused by genetic factors and inheritance.