Pectus Excavatum
What is Pectus Excavatum?
Pectus Excavatum is the most common congenital deformity of the thoracic cavity, accounting for nearly 95% of cases. It is characterized by a concave depression of the sternum, giving the chest a sunken appearance, also known as funnel chest. The malformation is diagnosed in newborns and progressively develops during puberty.
It is estimated to occur in approximately 1 in every 500-1000 births and is generally more common in males (with a male-to-female ratio of 3:1). The opposite deformity, also common among thoracic deformities, is known as Pectus Carinatum.
The etiology of Pectus Excavatum remains unknown, although it may be considered a hereditary condition. There is strong suspicion that it is an intrinsic molecular disease affecting the cartilage of the costosternal junctions in varying numbers and intensities. On rare occasions, PE is associated with syndromes (such as Marfan, Morquio, Pierre Robin, Prune Belly, Poland, Jeune, etc.), but it is usually present in isolation.
AN ASSESSMENT BY A PEDIATRIC OR THORACIC SURGEON IS IMPORTANT TO RULE OUT ANY CHEST WALL PATHOLOGY. CONSULT YOUR PEDIATRICIAN OR FAMILY DOCTOR.
DO YOU HAVE PECTUS EXCAVATUM?
DO YOU HAVE PECTUS EXCAVATUM?
We can help you. We put our knowledge at your service and the advice of the most experienced professionals in thoracic malformations. You can contact us to find out if your case could be corrected with our Pectus Up implant.
Causes of Pectus Excavatum
Pectus Excavatum, also known as sunken chest or funnel chest, is a deformity where the breastbone (sternum) is pushed inward. Although the exact cause is still not completely understood, several factors explain why this condition develops and what leads to the chest wall deformity.
1. Abnormal growth of the costal cartilage
The most accepted reason for Pectus Excavatum is an uneven or excessive growth of the cartilage that connects the ribs to the sternum.
When this cartilage grows irregularly, it pulls the breastbone inward, producing the characteristic depression in the chest.
According to studies published by the National Library of Medicine (NCBI) and Medscape, the issue may not be only in the cartilage length but also in its rigidity or reduced elasticity, which prevents the sternum from maintaining its normal position.
This abnormal cartilage development usually becomes more visible during childhood or adolescence, when the rib cage expands rapidly.
2. Genetic and hereditary causes
Many patients wonder if Pectus Excavatum is genetic — and research suggests that it often is.
Between 30% and 40% of patients have a close family member with the same or a similar chest deformity, indicating a hereditary origin.
Although no single gene has been identified, this pattern suggests that certain genetic factors influence how the cartilage and bones of the chest develop.
This genetic predisposition explains why some people are born with or develop the deformity more easily than others, even without external causes.
3. Connective tissue weakness
Another possible cause of Pectus Excavatum is related to connective tissue disorders such as Marfan syndrome, Ehlers-Danlos syndrome, or Poland syndrome.
In these conditions, the body produces collagen and elastin differently, which weakens the structure of the ribs and sternum.
This weakened chest wall cannot resist internal pressure as effectively, allowing the breastbone to move inward over time.
This connection between weak connective tissues and chest wall deformities has been widely described in medical literature.
4. Growth imbalance during development
During rapid growth — especially in adolescence — bones and cartilage in the chest may grow at different rates.
This growth imbalance can create tension that gradually pulls the sternum inward.
Although it is not considered a primary cause, it explains why the deformity progresses or becomes more visible as the body develops.
Children and teenagers often notice that the sunken chest appearance increases during growth spurts, even if it was mild at birth.
Diagnosis of Pectus Excavatum
Being a pathology that usually exacerbates with age, early assessment by an expert surgeon is very important.
CLINICAL
This deformity is progressive and usually makes its appearance in early childhood, although it can be visible from birth. The pediatrician or family doctor is usually the first professional consulted by patients to request information about Pectus Excavatum.
Many of the people affected by this pathology lead a completely normal life, without any type of physical or psychological affectation. But, as it is a pathology that tends to exacerbate with age, an early assessment by a surgeon is very important so that the deformity does not compromise the organs of the thoracic cavity or there is no significant psychological involvement.
CONVENTIONAL RADIOLOGY
It enables the observation of the sternal collapse in the lateral projection and the measurement of the AP diameter, as well as the transverse one. A metallic or barium marker can be placed at the bottom of the deepest part to improve visualization.
It also enables the appreciation of associated malformations, such as scoliosis, hemivertebrae, costal fusions, etc.
COMPUTERIZED TOMOGRAPHY
Patients will undergo a computed tomography scan (CT Scan or CAT) of the chest. Conventional cuts at the level of the maximum subsidence allow us to appreciate the degree of Pectus Excavatum from the calculation of the Haller Index.
It is recommended that this index be equal to or greater than 3.2, although this index should not be the only or the main value for the diagnosis of PE. Other indices should be assessed, such as the Correction Index, 3D external scan.
In the case of children, it is advisable to perform a Magnetic Resonance Imaging (MRI).
Pathophysiology of Pectus Excavatum
Approximately half of the cases affected by Pectus Excavatum will present clinical symptoms that will be due to the pathophysiological alteration of the malformation. Therefore, there will be a large population of patients with Pectus Excavatum who will not probably have symptoms or, consequently, criteria for correction.
In affected cases, the shortening of the anteroposterior diameter of the thorax causes a deviation of the mediastinal viscera, generally towards the left hemithorax, which leads to a deviation of the cardiac axis to the left and a restrictive ventilatory pattern.
In these cases, a deficit in blood filling in the right chambers of the heart can also be detected; cardiac displacement/rotation with a consequent decrease in left ventricular stroke volume, and reduced ability to pump efficiently; mitral valve prolapse; arrhythmias; or ventricular hypertrophy due to axis deviation.
Symptoms of Pectus Excavatum
The presentation of the deformity is visual and is already perceived in the first year of life, although it goes unnoticed due to the absence of symptoms, which will become evident in the prepubertal age. Cases detected early should be followed up at least until that age, since this is when the deficiencies produced by PE become apparent.
Patients suffering from this deformity may experience:
- Lack of adaptation to physical activity
The deviation of the mediastinum to the left side leads to a decrease in cardiac volume and, consequently, a lack of adaptation to physical activity.
- Respiratory problems
Decreased exercise tolerance, tiredness and shortness of breath, caused by decreased lung function; also severe restrictions of pulmonary ventilation with a restrictive pattern.
- Cardiac disorders
Precordial pain, palpitations, syncope and arrhythmias may appear.
- Morphological involvement of the spine.
It is common for the Pectus Excavatum to be associated with scoliosis, which can cause chest or lumbar pain.
Scoliosis occurs in all cases that have a certain degree of sternal rotation, which causes the ribs to rotate the vertebrae. This leads to the deformation of the spine, and not the other way around. All patients are born with Pectus Excavatum but without scoliosis. This deformity appears over time in asymmetric cases.
- Psychological disorders
Many people affected by chest deformity have behavioral changes, with a tendency to loneliness and social withdrawal.
Other manifestations
Many cases have a mild sequence of Poland with pectoral hypoplasia of the breast and the nipple, usually the right one, which exacerbates over time and becomes more acute at puberty, especially in female patients.
What is the treatment for Pectus Excavatum?
There are several techniques for treating Pectus Excavatum, ranging from non-surgical methods to surgical options, depending on the severity of the case and the patient’s specific needs.
Among the non-surgical treatments are vacuum bell therapy and targeted exercises, which can be helpful in mild cases and in growing patients.
As for surgical treatments, traditional options include the Nuss procedure, which involves placing an internal bar to reshape the chest, and the Ravitch technique, a more invasive procedure that requires resection of the costal cartilage.
One of the most innovative options among surgical treatments is the Pectus Up procedure, a minimally invasive alternative to conventional surgeries. It is based on an external lifting system that corrects the deformity without entering the thoracic cavity, significantly reducing surgical risks, postoperative pain, and recovery time.
It is important to remember that a consultation with a specialized surgeon is always necessary before considering any type of treatment, so they can properly evaluate the case and determine the most suitable option according to each patient’s characteristics.
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