What causes pectus excavatum?

The exact cause of pectus excavatum is still mysterious.

Scientists believe that the deformity happens of itself. Sometimes it is described as congenital, with a family history with the deformity. However, there are other medical conditions closely related to pectus excavatum.

Health professionals and scientists are working hard to find out the precise reason why this common chest deformity occurs. Studies need to reveal the root of the deformity so that a cure can be found for future prevention.

However, the studies revealed that other medical conditions are closely related to pectus excavatum. Also, they figured out ways to repair the deformity. If you or a close relative or friend, suffer from it, feel thankful that you live in 2019.

Back in the days, the deformity worsened the patient's quality of life on both psychological and physical levels. Nowadays, studies have found out ways you can repair it. You can choose a surgical and non-surgical approach.



7 Most Common Causes of Pectus Excavatum

pectus excavatum is inherited

1. Genetics

A study was done at Harvard Medical School, done by Robert C. Shamberger in 1996.

This small example size study revealed that 37% to 47% of all pectus excavatum patients have an affected first-degree relative, also suffering from the deformity. (1✍)

Research done on families revealed an inheritance by autosomal dominant, autosomal recessive, X-linked, and multifactorial inheritance in dissimilar relatives.

So, if your mother and father have a concave chest, there is a 37% to 47% chance that you'll also have it.

This study classifies the pectus excavatum deformity and forward rib posture, mostly as genetic.

Another research done in 2012 discovered plenty of other genetic markers for hollow chest deformities. This study found that roughly 43% of patients with pectus excavatum have a family member with a similar defect. (2✍)

In 1934, a student at Ohio State University revealed his strange-looking chest. Scientists were curious about it and decided to do an investigation. It was revealed that eight other members of his family had very similar conditions.

They decided to name this deformity "koilosternia." (3✍) This is the same deformity as pectus excavatum.

Scientists Snyder and Curtis determined that this abnormality followed an autosomal dominant pattern of inheritance.

Another scientist in 1939, named Stoddard stated hereditary connection in a family with 49 cases of pectus excavatum extending over four generations. This researcher also assumed autosomal dominant spreading. (4✍)

Recently, in 2006, a researcher by the name of HA Creswick issued the first expressive family research of pectus excavatum. In this study, 34 families were investigated. (​5✍)

Fourteen families displayed autosomal dominant heritage of pectus excavatum. Four showed autosomal recessive inheritance, and six were X-linked. Creswick determined that some cases were inherited through Mendelian genetics.

However, most seemed multifactorial.

These studies point to a genetic role in pectus excavatum cause.

KEY POINT:

Numerous scientific studies revealed a direct connection between pectus excavatum and genetics.


pectus excavatum with marfan syndrome

2. Marfan Syndrome

Investigation revealed that 70% of patients with Marfan syndrome suffer from pectus excavatum. These patients experience notable disease and mental anxiety. The sad thing is that it can get worse with age. (​6✍)

Marfan syndrome is a hereditary disorder that acts on the body connective tissue. This tissue is responsible for keeping the body cells, tissue, and organ cells with each other. Additionally, it plays a massive part in the proper development and growth of the body.

Around 1 in 5000 people suffer from Marfan syndrome. It is an inherited mutation that impacts both males and females from all racial and ethnic groups.

Statistics show that around 3 out of 4 people with Marfan syndrome have inherited it. Usually, it is transferred to the children from a parent who suffers from it. 

The main characteristics of Marfan Syndrome are complications in the joints, bones, and ligaments. If you have pectus excavatum and suffer from pain in these areas, it is critically important to consult with your doctor.

Along with that, the bones may be longer than usual. Generally, the ligaments are becoming stretchy – like a rubber band. These patients can also have some other skeletal abnormalities that should be examined by an orthopedic specialist.

Because the bones can grow extra-long, pectus excavatum and carinatum may occur.

It is very significant for patients with Marfan syndrome to receive early and precise diagnosis. Without a diagnose, the health complications can be deadly. Receiving early treatment is critically important if you have Marfan syndrome.

The pectus excavatum deformity in patients with Marfan syndrome can be fixed by surgical and non-surgical treatment. (​​7✍)

However, the nature of the connective tissue sickness makes the chest wall bone structure flexible. There is a higher chance of sunken chest re-occurrence after a surgical procedure. 

Because of this, the Nuss bar should stay underneath the sternum for a prolonged time. Studies suggest that surgical correction should be postponed until skeletal maturity is reached.

​​7

KEY POINT:

Roughly 70% of all Marfan Syndrome patients suffer from pectus excavatum.

They can choose to fix it surgically or non-surgically.


3. Spinal Muscular Atrophy

Spinal muscular atrophy (SMA) is a collection of neuromuscular illnesses that lead to loss of motor neurons and progressive weakening of the muscles.

SMA is divided into five categories, depending on the severity.

All Spinal Muscular Atrophy (SMA) type 1 patients and all those with SMA type 2 with paradoxical respiration can develop pectus excavatum if left untreated. (​8✍)

This is activated by the action of the diaphragm that is not controlled by the intercostal muscles.

As the diaphragm contracts, the abdomen expands. The "Bucket handle" movement of its insertion on the lower ribs creates an external expansion. This causes the upper chest to sink in.

The result is a funnel chest with the xiphoid process retracted and a problem in the lungs' development.

The patients with Spinal Muscular Atrophy type 2 attain the ability to sit unsupported for a limited period. However, they can develop a breathing failure throughout the youth. If uncorrected, this can reduce life expectancy and cause problems in later life.

Patients with SMA type 3 can walk and hardly ever show absurd breathing, or pectus excavatum.

To repair pectus excavatum, promote a natural lung growth, and chest wall development, high-span positive inspiratory pressure, plus positive end-expiratory pressure (PIP+PEEP) is used.

After a successful establishment of high-span PIP+PEEP, pectus excavatum repairs in SMA patients. Also, the lungs and chest wall start growing normally.

KEY POINT:

Patients suffering from SMA Type I and II have the highest chance of having pectus excavatum. If left untreated, PE can cause breathing failure which can be life-threatening.


4. Noonan Syndrome

Sternal malformations in patients with Noonan syndrome are present in approximately 75% to 90% of all sufferers.

They either have pectus excavatum or pectus carinatum. Also, a high percentage of these patients have scoliosis. 

Noonan syndrome is a genetic disorder that influences many areas of the body. It is identified with skeletal abnormalities, atypical facial features, body smallness, heart problems, and bleeding issues.

KEY POINT:

Noonan syndrome is a direct cause of pectus deformities.


5. Loeys-Dietz syndrome

Just like the Marfan syndrome, Loeys-Dietz syndrome affects the connective tissue in various parts of the body. The connective tissue gives strength and elasticity in the bones, ligaments, blood vessels, and muscles.

Sternal abnormalities are very typical in connective tissue disorders. This is the second most common connective tissue syndrome that causes pectus excavatum.

Depending on the severity, the Loeys-Dietz syndrome is categorized into five types, starting from Type I to V.

Patients with Loeyz-Dietz syndrome have easily noticeable musculoskeletal problems. They either have an inverted chest (pectus excavatum) or a chest that sticks out (pectus carinatum).

They also have craniosynostosis, scoliosis, kyphosis, a foot that turns inward and upward, flat feet, and lengthened arms and legs with joint malformations.

KEY POINT:

Most Loeys-Dietz syndrome patients have muscuoskeletal problems. A high percentage of them have either pectus carinatum or excavatum.


6. Ehlers–Danlos Syndrome

The Ehlers-Danlos syndrome is a set of complaints that disturb the connective tissue of the sufferer. It is congenital and frequently linked to pectus excavatum. It also affects the skin, bones, blood vessels, and other vital organs and tissues.

All flaws in the connective tissue cause severe symptoms of these conditions. The indications of EDS can range from slightly wobbly joints to life-endangering complications.

An unusually high range of joint motion (hypermobility) is present in all patients suffering from this syndrome. Kids and babies with hypermobility usually have weak musculature. This prevents them from developing essential motor skills such as walking, sitting, and standing.

Their joints are usually very loose, unstable, and disposed of dislocation and lasting agony. Infants suffering from this syndrome typically have dislocated hips at birth.

Scientific research revealed that the minimally invasive Nuss procedure gives high functional and beautifying results in patients with Ehlers-Danlos syndrome. (9✍)

It was suggested that pectus excavatum correctional surgery was both safe and effective in EDS patients.

The success rate of the caved-in chest operation in patients with connective tissue disorder is the same as people without these illnesses. However, the pectus bar dislocation chance is slightly higher in patients with connective tissue disorders.

Even though the Nuss procedure with costal cartilage chondrotomy resulted in significant cosmetic improvements for a sufferer with unequal PE, surgeons should be alert of the likelihood of continual pleural effusion after the procedure in patients with EDS.

KEY POINT:

Ehlers-Danlos syndrome is a connetive tissue disorder. These patients mostly suffer joint hypermobility. Science has proven that there is a direct correlation between EDS and pectoralis excavatum.


7. Celiac disease

Pectus excavatum is caused in about 1% of people diagnosed with a Celiac illness. As of 2019, the reasons remain unknown.

Celiac disease is an immune system illness. It makes patients unable to eat gluten because it will harm their small intestine. If you're suffering from this disease and you consume foods that contain gluten, then your immune system will respond, hurting your small intestine.

This disease is hereditary. It disturbs every sufferer differently.

Most of the signs happen in the digestive system or other areas in the body. Also, it can be psychologically irritating. Some patients suffer from depression, while others only feel stomach pain and diarrhea.

Some people won't feel any symptoms.

The best treatment of Celiac disease is to consume gluten-free food.

KEY POINT:

1% of all Celiac Disease sufferers have pectus excavatum. It's an illness that leaves a negative psychological effect on the patient.


Honorable Mention - Scoliosis / Poor posture

Scoliosis and poor posture are closely connected with pectus excavatum. However, no scientific evidence proved that pectus excavatum occurs because of scoliosis and bad posture.

But, if a patient suffers from pectus excavatum and his posture or scoliosis gets worse, then the severity of the deformity will improve. It is critically important to improve your posture and strengthen the postural muscles in the back.

Look at the posture of pectus excavatum sufferers. What you'll see is what people call "pectus posture" appearance.

Thanks to our Nine-To-Five jobs, school, and improper sitting habits, we tend to forget how important posture is to humans.

Bad posture and scoliosis will lead to physical suffering like back and sternal pain and psychological problems like depression and anxiety.

If you have the pectus excavatum deformity, make sure you check how you carry your body in your everyday life.

Are your shoulders slouching? Do you have an anterior pelvic tilt? Do you have a forward head posture?

All these are indicators of a poor posture.

If you do, check out this specific concave chest workout plan. They will help you improve your poor posture, boost your happiness, positive self-image and, most importantly, help you fix your pectus excavatum condition.

Concave chest anxiety will be gone as a result.


How I Fixed My Hereditary Pectus Excavatum

Don't be discouraged by people who claim that pectus excavatum is not treatable without surgery.

The way you can fix it isn't only by undergoing painful and expensive surgery that costs around $40 000. There is plenty of scientific evidence that proves this.

The non-surgical correction consists of physical therapy, wearing corrective orthoses, vacuum bell therapy, and stretching the tight muscles that worsen your posture through yoga.

This was the approach that I decided to take.

You can check my story to see how I managed to correct my mild pectus excavatum without an operation.

I was terrified of taking surgery. I couldn't handle the thought that I'd have a pectus bar underneath my breastbone for three long years.

Also, I couldn't play any contact sports during the time because of the chance of bar dislocation. If the bar is dislocated, it may rupture critical vital organs and blood vessels, which can lead to death. 

Thanks to my fear of surgery, I managed to fix my deformity in less than a year with proper research, dedication, consistency, and iron will! You can do it too!


Conclusion

You don't have any control whether you'll be born with pectus excavatum or not. As you can see, the pectus excavatum cause is mostly genetic. Other reasons are the consequences of rare diseases.

Usually, people with these rare diseases have more significant concerns to deal with than pectus excavatum. 

You should even feel grateful that your indented chest deformity is genetic.

If your deformity is inherited, please accept your body as it is. Every single person on this planet is insecure about something. Even some of the biggest adult Hollywood movie stars have a lack of confidence.

Learn to love yourself. As cliché as it sounds, it could've been worse.


References

1. ⬆️Shamberger, R. C. (1996) ‘Congenital chest wall deformities’, Current Problems in Surgery, 33(6), pp. 469–542. doi: 10.1016/S0011-3840(96)80005-0.

2.  Brochhausen, C. et al. (2012) ‘Pectus excavatum: history, hypotheses and treatment options’, Interactive CardioVascular and Thoracic Surgery, 14(6), pp. 801–806. doi: 10.1093/icvts/ivs045.

3. ⬆️ Dean, C. et al. (2012) ‘Pectus excavatum (funnel chest): a historical and current prospective’, Surgical and Radiologic Anatomy, 34(7), pp. 573–579. doi: 10.1007/s00276-012-0938-7.

4. ⬆️ Stoddard, S. E. (1939) ‘The Inheritance of “Hollow Chest”’, Journal of Heredity, 30(4), pp. 139–141. doi: 10.1093/oxfordjournals.jhered.a104698.

5. ⬆️ Creswick, H. A. et al. (2006) ‘Family study of the inheritance of pectus excavatum’, Journal of Pediatric Surgery, 41(10), pp. 1699–1703. doi: 10.1016/j.jpedsurg.2006.05.071.

6. ⬆️ De Maio, F. et al. (2016) ‘Orthopaedic Aspects of Marfan Syndrome: The Experience of a Referral Center for Diagnosis of Rare Diseases’, Advances in Orthopedics, 2016, pp. 1–6. doi: 10.1155/2016/8275391.

7. ⬆️ Fraser, S., Child, A. and Hunt, I. (2018) ‘Pectus updates and special considerations in Marfan syndrome’, Pediatric Reports, 9(4). doi: 10.4081/pr.2017.7227.

8. ⬆️ Bach, J. R. and Bianchi, C. (2003) ‘Prevention of Pectus Excavatum for Children with Spinal Muscular Atrophy Type 1’, American Journal of Physical Medicine & Rehabilitation, 82(10), pp. 815–819. doi: 10.1097/01.PHM.0000083669.22483.04.

9. ⬆️ Masahata, K. et al. (2017) ‘Nuss procedure for a case of asymmetric pectus excavatum associated with Ehlers-Danlos syndrome’, Journal of Pediatric Surgery Case Reports, 22, pp. 20–24. doi: 10.1016/j.epsc.2017.05.004.

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