13 Science-Backed Causes of Pectus Carinatum in 2022: What’s the Exact Cause & What to Do

Evidence Based This post has medical citations

Pectus carinatum is a sister deformity to pectus excavatum, and these two deformities have very much in common. These are the two most frequent anomalies of the bones in people.

They affect the chest bone and can change its appearance in different ways. In pectus excavatum, the deformed chest looks sunken.

Just like excavatum, the pectus carinatum can also be asymmetric, which causes a rotational deformity of the sternum. The visible appearance of the affected side of the chest is abnormal.

Patients with pectus carinatum may experience one-sided, two-sided, or mixed bulges.

What Is the Exact Cause

Medicine scientists still search for the precise cause of pectus carinatum. To this day, medicine is not quite sure of the definite answer for what causes pectus carinatum and the innate bulge of the chest wall.

Finding the exact reason for the deformation is a slow process. 

But, I will share with you a few most supported scientific explanations of the causes. All possible causes of the deformity are associated with a genetic problem. Because this malformation can run in families, genetics may be a chance factor for pectus carinatum to happen.

People with particular congenital disorders are more likely to develop pectus carinatum.

Discovering the original problem of pectus carinatum is of crucial meaning. That would help find a remedy for future prevention of this malformation.

When Does it Occur

Pectus carinatum occurs most commonly at an early age and becomes extra obvious through puberty. It may go unnoticed until a youngster reaches adolescence. But in the end, visibility of this deformity happens in most cases. 

The bulge can be more or less visible. Still, it remains a challenging condition for the patient, whether it causes a mental or physical problem. Many unwanted extra issues can appear in people who struggle with pectus carinatum.

What Syndromes Cause Pectus Carinatum

It is widespread for children with pectus carinatum to have another health problem.

  • They may have Edwards syndrome, a genetic condition caused by all or part of an extra copy of chromosome 18.
  • Down syndrome – causes the presence of all or part of an extra copy of chromosome 21.
  • Marfan syndrome – is a connective tissue illness that affects people of all ages.
  • Morquio syndrome – is characterized by abnormal bone and cartilage growth, development, form, or integrity.

Science has shown that having these syndromes can cause pectus carinatum.

Importance of Pediatric Consultation

With early and on-time detection of the problem, all of these additional issues can be prevented or managed with medication or proper therapy.

Please do a regular pediatric consultation, talk with your kid, and make him feel the best. Diagnosing these deformities is accessible in medicine, so be hopeful for a positive outcome with your kid.

Fixing the Deformity is Accessible

However, doctors and scientists offered many solutions to correct the abnormality. If you have a bulging chest, consider yourself lucky that you live in the new century because the first treatment for pectus carinatum arrived a few decades ago.

Today, all needed treatment options or general treatment information are very accessible.

13 Most Common Causes of Pectus Carinatum Deformity

1. Poor elongated growth

Many doctors think the problem is caused by the cartilage that joins the ribs to the breastbone. The breastbone is out of its normal position because the cartilage in the ribs develops more quickly than the bones.

Both pectus carinatum and pectus excavatum occur because of insufficient elongated costal cartilage formation.

2. Post Pectus Excavatum Surgery

Following surgery for pectus excavatum, some individuals may develop pectus carinatum. Pectus excavatum has a different natural path than this malformation. When compared to excavatum, carinatum has an extended occurrence period.

That could be because the sticking-out abdomen strengthens pectus excavatum in early childhood, and the recession of the abdominal form in later years indicates the protruding chest defect in early adolescence.

Most individuals have no symptoms, but the pain in the chest growth area is the most common symptom.

3. Genetic

In many circumstances, the problem has a genetic basis. It is combined with other symptoms typical of a hereditary disorder. Unlike pectus excavatum, pectus carinatum is mainly a cosmetic obstacle for most people.

Although most studies of pectus carinatum say it is a congenital anomaly, the occurrence rate in individuals is much lower than that of pectus excavatum cases.

Due to the small number of cases with inherent pectus carinatum, a dilemma among the doctors is created. The possibility of genetic inheritance of the deformity is not indeed ruled out. Still, scientists need to find out why there is a small number of such cases.

However, it all comes down to the pressure on the baby’s cartilage while still in the mother’s womb.

4. Marfan syndrome

Marfan syndrome is a connective tissue illness that affects various body regions. The severity, initiation time, and speed of developing the signs and symptoms vary greatly. Bones, ligaments, muscles, and the heart rely on connective tissue for strength and flexibility.

Because connective tissue may be found throughout the body, Marfan syndrome can affect various organs and systems, producing problems in the heart, blood vessels, eyes, bones, and joints.

This illness causes individuals to be taller than ordinary people, and they often have elongated extremities. Due to the expansion of the long bones, people with Marfan syndrome generally have a skinny physique and excessively long, slender arms and legs.

Overgrowth of the ribs can push the breastbone inside, resulting in a sunken chest (pectus excavatum), or outward, resulting in a pigeon chest (pectus carinatum), which is among the skeletal deformities people with Marfan syndrome experience.

5.Ehlers-Danlos syndrome

Ehlers-Danlos syndrome (EDS) presents a collection of connective tissue illnesses that affect the body differently and have different genetic origins. The unusual structure or function of collagen and other connective tissue proteins is the source of worry and a potential cause of EDS.

  • Joint hypermobility (joints that move beyond their normal range)
  • Joint instability (partial separation of the participating surfaces of joints)
  • Dislocations (complete separation of the surfaces of a joint)
  • Scoliosis
  • Skin hyperextensibility (skin that can be stretched further than usual)
  • Abnormal scarring
  • There is also tissue weakening in the rarer varieties of EDS, leading to significant dental disease, eye illness, heart valve, and aortic root abnormalities.
  • Joints and pectus carinatum cause muscle pain and nerve pain; loose and unstable joints are prone to frequent dislocations. EDS causes muscle tension and weakness, which plays a big part in pectus carinatum.

6. Metabolic disorders, such as homocystinuria

Homocystinuria is a rare but potentially severe inherited condition that involves abnormal amino acid methionine processing. That causes a toxic build-up of substances in the blood and urine. That is an enzyme required to break down homocysteine. Some signs of this condition are:

  • reduced eyesight
  • intellectual incapacity
  • skeletal deformities 

A significant deficiency of the enzyme needed to digest homocysteine causes homocystinuria.

A blood test is used to make the diagnosis of this condition. Some youngsters may benefit from a specific diet consisting of:

  •  vitamin B6
  • betaine
  • folic acid supplements

 Homocystinuria is an autosomal recessive trait that runs in families. To be significantly changed, the kid must inherit a non-working copy of the gene from each parent. Homocystinuria has several similar characteristics to Marfan syndromes, such as skeletal and visual abnormalities.

An increasing visual issue, such as chest abnormalities, may point to diagnosing this illness connected with pectus carinatum or pectus excavatum.

7. Noonan syndrome

Noonan syndrome is a condition that affects people from the moment they are born. It causes several unique characteristics as well as health problems, such as:

  • Congenital cardiac problems
  • Short height
  • Unusual facial characteristics

Slow growth might be caused by abnormal amounts of growth hormone, a protein required to develop the body’s bones and tissues properly. Noonan syndrome patients frequently have a depressed chest (pectus excavatum) or a projecting chest (pectus carinatum).

Some patients with this condition may have an abnormal side-to-side curvature of the spine (scoliosis).

8. Morquio syndrome

Morquio syndrome is a rare genetic disorder that affects the bones, spine, children’s organs, and physical ability. The enzymes that break down sugar chains usually created in the body are absent or insufficient in children with this disorder.

Over time, these chains build up in cells, blood, muscles, and ligaments, causing harm. Morquio syndrome manifests itself in various ways, including incipience age, the pace of development, and the kind and intensity of symptoms.

Initial symptoms are seen at an average age of 2 years (standard deviation 1–3 years), according to the International Morquio Registry. 

Common symptoms

There is usually no central nervous system damage at delivery.

9. Brittle Bone Disorder

This disorder is known as osteogenesis imperfecta (OI), a hereditary condition that causes bones to fracture easily. Breaks in bones can occur for a variety of reasons. 

Possible symptoms of this disorder are:

  • Weak muscles
  • fragile teeth
  • bent spine
  • hearing loss. 

One of the numerous genes that aren’t operating correctly causes OI. When these genes don’t run, it impacts how collagen, a protein that helps bones stay strong, is created. The symptoms of OI can range from moderate to severe, and they differ from person to person.

A person may have a few fractures or several numbers in a lifetime. OI does not have detailed research diagnosing process. To detect it, your doctor will look at your medical and family history, do a physical test, and order imaging and lab testing.

Your doctor may also analyze your collagen (received from your skin) or DNA (from blood).

Since brittle bone disease makes bones very fragile, it is a massive trigger for the body to develop such a deformity as pectus carinatum.

10. Coffin-Lowry Syndrome

The intellectual difficulty, head and face region anomalies, large and soft hands, short and thin fingers, small height, or numerous skeletal abnormalities are symptoms of Coffin-Lowry syndrome (CLS). 

An undeveloped upper jawbone, an excessively prominent brow, down slanting eyelid folds, widely spaced eyes, and huge ears are all common physical characteristics.

Abnormal curvature from the front to the back and side-to-side of the spine and atypical protrusion of the breastbone are examples of skeletal anomalies such as pectus carinatum.

Bone anomalies include thickening the facial bones, shortening the bones, and a pointed or sunken or outwarded breast bone.

11. Scoliosis

There is a link between anterior chest wall abnormalities and scoliosis in the literature. However, it is not well characterized. Only around 4-5% of individuals with significant anterior chest wall abnormalities appear to have severe scoliosis for assessment and supervision by a spinal deformity expert.

The link between anterior chest wall deformity and scoliosis is particularly evident. For everyone who experiences a scoliosis problem, please make your doctor’s appointment and check your bones’ progress. 

Scoliosis is a condition in which your spine curves sideways. S- or C-shaped curves are the most common. Scoliosis is most frequent in late childhood and adolescence when children’s bodies rapidly grow. Scoliosis is more widespread in girls than it is in boys.

Leaning to one side and having unequal shoulders and hips are common symptoms. It is sometimes simple to observe, but not always. 

Screening

Scoliosis screening can be done at school in regular analyses or at routine doctors’ appointments. If there is a potential problem, your doctor will establish a diagnosis based on your medical and family history and physical and imaging testing. 

Treatment determinates your:

  • Age
  • Amount of growth you have,
  • Amount of curvature
  • Whether the curve is temporary or permanent. 

People with moderate scoliosis may require periodic checks to evaluate if the curvature of the spine is worsening. Others may require surgery or the use of a brace.

Developing pectus carinatum depends on your scoliosis level—the more severe your scoliosis, the higher the chances for pigeon chest.

12. Calcium (Ca) mineral metabolism disorder

Too little or too much calcium can develop calcium metabolism disorders in our bodies. That is why I recommend regular blood tests to find what vitamins and minerals your body needs.

Taking supplements without any previous analysis and doctor’s approval can sometimes cause a bigger problem than not taking them at all.  

Calcium level in the blood is controlled within a narrow range in the human body. It is tightly controlled by parathyroid hormone, vitamin D, and the calcium detecting receptor. Low calcium levels in the blood can result in metabolism problems, such as hypercalcemia or high levels.

Through constant bone remodeling, bone serves as a calcium storage center for the blood’s deposits and withdrawals.

Having too little calcium can cause osteopenia, reduce mineral density in the bones, make them thin and weak to breaks, as well as pain and problems with posture.

Pectus carinatum, one of the most common chest bone problems, can be significantly affected by this condition, so be very careful with your vitamins and mineral intake.

13. Respiratory diseases, such as chronic Asthma

Chronic respiratory disorders are illnesses that affect the airways and other sections of the lungs in the long term. Asthma, chronic pulmonary disease, lung cancer, sleep apnea, and functional lung illnesses are most frequent.

Everyone can be affected by respiratory disorders, from children to elders. Most of these diseases are chronic and can significantly impact the person with the condition.

As a chronic illness, Asthma affects a large number of children and adults across the world. The most recognizable asthma symptoms are coughing, shortness of breath, chest tightness, and wheezing.

Exercise or allergens, viral respiratory infections, irritating mists, or gases can trigger asthma symptoms and cause extra critical shortness of breath. Asthma symptoms can be caused by inflammation and abnormal narrowing of the airways due to these exposures.

Effective treatment can prevent and limit the emergence of symptoms in response to these triggers.

Chronic respiratory diseases are closely related to chest deformities. They can make it more difficult for someone who already struggles with any form of chest abnormality.

How Poor Posture Can affect Pectus Carinatum

Poor and improper posture can lead to additional problems. They may seem insignificant initially, but they will do their part in time.

  • Breathing difficulties
  • Back pain, either in the lower or upper back
  • A decrease in self-assurance
  • Pain and a sense that your spine is deteriorating
  • Non-corrected scoliosis can cause nerve or spine damage
  • Affect your stability and make you more likely to fall

Conclusion

All negative physical changes have psychological consequences on the patient.

Pectus carinatum isn’t a life-threatening issue. Most children with this malformation can still have a regular and healthy life. There’s a chance that the doctor will not direct a medical treatment if the condition is mild to moderate. 

However, don’t beat yourself if you have some of these conditions and abnormalities. It is best to accept yourself and go on with your life. Be more active and more motivated every single day!

You didn’t want to be born with this. Look at it as a blessing in disguise. As you can see, all of the causes of pectus carinatum are inherited associated. But, you can want to change yourself for the better!

You can even be thankful that your indentation chest deformity is hereditary. Accept your body as it is if your abnormality is genetic. Every person on the earth is self-conscious about something.

Learn to appreciate yourself. I know that mainly all problems come very early in our lives, but there is a lot of time in front of us to correct them. Always try your best and never lose faith. Believe that a little every day goes a long way.

Keep your posture in check while doing ordinary things like watching TV, doing dishes, or walking. Continue to be active. Any physical activity can help you improve your condition, but specific and simple exercises can be beneficial. 

Yoga and other body-awareness-focused classes are among them. It’s also a good idea to try core-strengthening activities if you’re a fitness beginner.

Article by:

Mihail Veleski

My name is Mihail Veleski. I used to suffer from the pectus excavatum deformity during my teenage years.

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