What is Chest Wall Deformities?
Chest wall deformities are a set of birth defects that vary widely in their types and severity. These might appear on their own or be linked with other abnormalities beyond the chest area and different genetic conditions. These deformities can cause problems from birth through to teenage years, ranging from dangerous health issues to concerns about physical appearance.
The main forms of treatment usually include medical interventions, surgical repairs, and genetic counseling. The surgical solutions are often complicated and many factors need to be considered, such as the patient’s age, gender, when to do the surgery, and the type of materials and grafts to be used for the repair.
This overview aims to describe some of the most common chest wall deformities that might be encountered from a general chest surgery perspective. The specific conditions discussed here include pectus excavatum and pectus carinatum (different types of deformities of the chest wall), sternal clefts (a gap in the breastbone), ectopia cordis (where the heart is outside of the chest), and the syndromes of Poland, Jeune, and Jarcho-Levin (different genetic disorders that can cause chest wall deformities).
What Causes Chest Wall Deformities?
Pectus Excavatum is a condition where the sternum, or breastbone, appears sunken in. The exact cause is unknown, but it’s thought to be related to issues with collagen – the protein that provides structure to your body’s tissues. This issue could lead to overgrowth of the sternum’s cartilage, causing it to protrude. While this condition usually appears on its own, it can be linked to genetic mutations. In some cases, it runs in families or is associated with conditions like Marfan or Noonan syndromes, which are inherited from parents. A condition known as MASS phenotype, tied to a mutation in the FBNI gene, is also associated with Pectus Excavatum. This involves issues with the mitral valve and aorta in the heart and changes in the skeleton and skin.
Pectus Carinatum is a condition where the breastbone protrudes outward. It’s believed to have similar causes to Pectus Excavatum, but it may be linked to a mutation in a specific gene called COL2A1. This gene is important for producing collagen. The familial and genetic factors associated with Pectus Carinatum are much like those associated with Pectus Excavatum.
Poland Syndrome involves malformations of the chest wall and limbs. The cause is thought to be more related to something happening to the fetus in the womb than to inheritance, but family cases shouldn’t be ignored. One theory is that an issue with the blood supply to the embryo leads to these malformations. Some research links this syndrome to medication or tobacco use during pregnancy. The genetic factors associated with Poland Syndrome involves a 50% risk of inheritance in cases where the condition appears on both sides of the body. A condition called Mobius syndrome, which affects the muscles that control facial expression, is also linked to Poland Snydrome, but the genetic risk is considered low.
Sternal Clefts are essentially splits or divisions in the breastbone. They’re believed to be caused by cells failing to move and merge properly during the sixth to ninth week of pregnancy. This developmental issue may be linked to mutations in the Hoxb gene. Some associated genetic conditions include Cantrell Pentalogy, linked to inheritance from the X-chromosome with low risk, and PHACE syndrome, also with low risk. Genetic risk in cases not associated with other syndromes is low.
Ectopia Cordis is a condition where the heart is located outside of the chest. The exact cause is unknown, but it’s thought to be linked to an issue with embryonic development called ventral folding morphogenesis (VFM) impairment. Potential causes include early rupture of the egg sac during pregnancy. Research also suggests a link to an issue with a gene known as BMP2. This disorder may be linked to other genetic conditions, such as Turner syndrome or trisomy 18, but the genetic risk depends on the associated syndrome.
Jeunes Syndrome involves a range of bone and cartilage disorders. It’s due to a mutation on specific genes on chromosome 7 that plays a role in cell movement. Recently, a mutation in another gene called DYNC2H1, tied to structures in cells called cilia, has been pointed out as a central cause. The genetic risk is variable, with 25% risk of having the disease, 50% risk of being a carrier, and 25% chance of having normal genes.
Jarcho-Levin Syndrome involves a range of disorders affecting bones and cartilage, particularly in the spine and rib cage. The cause depends on the specific form of the syndrome. Some forms are linked to mutations in the DLL3 and/or MESP2 genes and can be dominant or recessive. In these forms, the gene mutation is not present. A mutation in the PAX1 and/or PAX9 genes has also been linked to this syndrome. Genetic risk depends on whether the parents carry these gene mutations.
Risk Factors and Frequency for Chest Wall Deformities
Pectus Excavatum is the most common chest wall deformity, making up 90% of the cases. It’s most prevalent among white individuals, appearing in one out of every 400 births, with males five times more likely to have it than females. This condition often appears as a unique feature, not associated with any family traits, though up to 40% of cases can indicate a genetic link. It can also be related to certain genetic syndromes, such as Noonan and Marfan. In some cases, Poland syndrome rib hypoplasia may result in secondary pectus excavatum, possibly needing treatment with a procedure named Ravitch. Roughly 80% of the cases are diagnosed when the child is two years old. It has some associations with heart conditions like mitral valve prolapse and arrhythmias.
Pectus Carinatum, the second most common chest-wall deformity, is much less common than Pectus Excavatum, appearing in 0.06% of births with a 4 to 1 male predominance. This condition can either manifest alone or be part of certain genetic syndromes, similar to Pectus Excavatum. Patients generally seek medical help during puberty. Certain heart abnormalities could coincide with Pectus Carinatum.
Poland Syndrome has an average incidence of 1 in 20000 to 1 in 30000 with a male predominance. This condition isn’t considered genetic given that most cases present unilaterally. The anomaly generally shows on the right side in males but shows no side preference in females. Also, it has correlations with several health conditions including leukemia, breast cancer, cervical cancer, and lung cancer.
Sternal Clefts, the most common type of sternal defects, represent 0.15% of chest wall deformities. The problem can be associated with several syndromes and has a female predominance. Its incidence isn’t easy to estimate. However, it can be part of PHACES syndrome, midline fusion defects, and cavernous hemangiomata, among others.
Ectopia Cordis, an extremely rare chest-wall deformity, occurs in 1 of 5.5 to 7.9 per million live births. Some forms of this condition can be linked to congenital heart diseases or other midline defects.
Jeunes Syndrome has an incidence of 1 per 120000 live births, with most deaths occurring in up to 75% of cases during the first two years of life. This disorder correlates with the abnormal development of several body parts, like the ribs, kidneys, liver, and pancreas.
Jarcho-Levin syndrome has a prevalence that isn’t well defined but is known to have a genetic link and doesn’t show a preference for any gender. This condition affects bone development leading to several health issues. In severe cases, it can result in infant mortality.
Signs and Symptoms of Chest Wall Deformities
Pectus Excavatum is a condition that can be noticed at birth but often doesn’t become apparent until early childhood or the teen years. People with the condition tend to be tall and thin, appearing healthy except for a noticeable dip in the chest, which is the main symptom. The condition can also cause some discomfort in the chest and lower ribs. Importantly, the condition can lead to problems with body image and associated mental distress.
Pectus Carinatum is another chest-related condition. Its signs and symptoms are similar to those of Pectus Excavatum.
Poland Syndrome involves a variety of symptoms and can be detected prenatally or anytime from birth to adolescence. The symptoms can include differences in the size and functionality of limbs and torso along with differences in the length of some parts of the arms and fingers. There is also possible disease of the breast tissue.
Sternal Clefts can be detected before birth via sonography or noticed at birth. The exact symptoms depend on the type of cleft, but may include a bulge in the skin or a noticeable pulse in the chest area. It’s crucial to identify if this condition is impacting heart and lung function or associated with other abnormalities.
Ectopia Cordis is a condition that doctors recommend detecting before birth. The key symptoms are an out-of-place heart and coexisting abnormalities in the body.
Jeunes Syndrome can be detected prenatally with an ultrasound. At birth, the main signs of Jeunes Syndrome may include a narrow chest, short limbs, bent fingers, a high fixed positions of the collar bones, and a small pelvis with underdeveloped hip bones.
Jarcho-Levin syndrome can also be detected prenatally by scanning for abnormalities in the spine. Symptoms after birth may include short trunk dwarfism along with deformities in the spine and ribs.
Testing for Chest Wall Deformities
If you have a condition affecting the shape of your chest called Pectus Excavatum, doctors use a variety of tests to understand its impact on your heart and lungs. For example, they use tests that measure how well you breathe and how your lungs and heart function, as shown on an echocardiogram (a type of ultrasound). They also measure your ability to exercise. Other tests may be important, depending on your specific situation. For the best understanding of your chest shape, doctors use a type of scan called a computerized tomography (CT) scan, which provides a 3D picture of your chest. Other tools like bedside measurements, magnetic resonance images (MRI), and video imaging can also be useful. A score called the Haller index helps your doctor determine how severe your chest depression is—a high score means a more severe condition. They will also classify the type of your chest deformity, which affect the shape of the chest based on other features such as whether your chest is symmetrical (even on both sides).
Pectus Carinatum, another disorder that changes the shape of your chest, uses the same tests and scoring as Pectus Excavatum. However, the Haller index doesn’t have a specific cut-off value for this condition, but a typical value seen in many patients is 1.9. This chest shape often comes with difficulty breathing during exercise.
Poland Syndrome, a condition involving deformities of the chest, skin, and hands, requires an evaluation focused on these deformities and any related conditions. CT scans, MRIs, and different types of imaging can be used to provide detailed views of these deformities. Doctors may conduct further tests to check for associated conditions and cancer risks.
The same goes for other conditions such as Sternal Clefts and Ectopia Cordis. Doctors will use a variety of tests and scans (CT scans, MRIs, etc.) to evaluate any abnormalities and ensure that any dangerous conditions are promptly addressed. In more severe cases, such as Ectopia Cordis, where the heart is outside the chest, parents might be offered the option to terminate the pregnancy during the first trimester due to the poor prognosis and potential psychological impact.
And lastly, in conditions such as Jeunes Syndrome and Jarcho-Levin syndrome, the evaluations start with supporting any immediate breathing distress and investigating potential organ anomalies. Various imaging tests including CT scans, MRIs, and X-rays, as well as others like ophthalmoscopy (an eye exam) and laryngoscopy (a throat exam), are commonly used. A genetic test may be performed to understand the inheritance pattern of these syndromes.
Treatment Options for Chest Wall Deformities
Pectus Excavatum is a condition where the chest appears sunken due to a deformity in the sternum (chest bone). Surgery is commonly recommended for people who experience difficulty in breathing or heart-related problems, those who are troubled by their appearance, or those who have a severe form of the deformity. Generally, surgery is usually done when the patient is between 12 to 14 years old. However, it can be performed on younger or older patients as well, depending on the circumstances. There are a few surgical options available, including the Nuss procedure (minimally invasive) or the Ravitch procedure (open surgery). In some cases, there may also be a need for a second procedure to remove certain bars used in the surgery. Non-surgical options involve rehabilitation programs aimed at improving posture and muscular strength.
Pectus Carinatum is a condition where the chest protrudes outwards. Surgery in this case is recommended for those experiencing chest pain, breathing problems, or psychological distress due to their appearance, or when techniques that do not involve surgery fail. A modified Ravitch procedure is commonly used for treating this condition. Apart from surgery, non-surgical treatment options, like orthotic bracing devices, can also be used for managing this condition.
Poland Syndrome is characterized by underdevelopment or absence of the chest muscle on one side of the body, which might lead to problems with appearance and chest function. In general, it is suggested to carry out the surgical repair after puberty. The aim during the surgery is to correct the chest wall symmetry, create an anterior axillary fold, and reconstruct the hand if needed. The surgical approach can vary based on the individual case.
Sternal clefts are defects in the chest wall where parts of the sternum (breastbone) are missing. The need for surgical repair depends on the severity of the cleft and the presence of other problems. Small defects with no symptoms may not need surgery. For those who require treatment, surgical correction aims to protect the internal organs of the chest, improve breathing function, and promote normal growth and development of the chest.
Ectopia Cordis is a rare condition where the heart is located outside of the chest. Essential support is offered to these newborns, and if possible, a staged surgical intervention is performed. The main focus of the treatment is to return the heart to the chest cavity and repair any cardiac defects.
Jeunes Syndrome is a disorder that affects the growth of long bones and the ribs, leading to a small and narrow chest. The main objective of treatment is to provide aggressive respiratory support. Surgery might be recommended if the child experiences severe respiratory distress between the ages of 8 and 18 months. The surgical options are aimed at expanding the diameter of the chest wall.
Jarcho-Levin syndrome is a condition where the bones in the spine and ribs grow improperly, causing a small chest cavity. The treatment goal here is also to provide aggressive breathing support. Surgery can be an option if curved spin (scoliosis) develops or the child starts experiencing respiratory distress.
What else can Chest Wall Deformities be?
When diagnosing specific chest deformities, there are several other health conditions that doctors must consider. These conditions may have similar symptoms or features, and it’s crucial to differentiate between them for accurate diagnosis and treatment.
For instance:
- For figuring out Marfan syndrome and other related conditions, physicians would also look for other deformities.
- When diagnosing Poland Syndrome, possibilities like normal breast asymmetry in females, Swayer-James syndrome, and giant bulla are considered.
- Sternal Clefts may be linked to conditions such as limb body wall complex, amniotic band syndrome, and Cantrell pentalogy.
- Ectopia Cordis could be confused with other conditions like trisomy 18 and Turner syndrome.
- Jeunes Syndrome shares symptoms with illnesses such as Ellis-Van Creveld syndrome, short rib polydactyly syndrome, Barnes syndrome, and Shwachman-Diamond syndrome.
- Jarcho-Levin syndrome could be mistaken for spondyloepiphyseal dysplasia, Morquio syndrome, chondrodysplasia, Klippel-Feil syndrome, or short rib polydactyly syndrome.
An accurate diagnosis is essential to start the right course of treatment, which is why considering all these differential diagnoses is essential.
What to expect with Chest Wall Deformities
Pectus Excavatum
Pectus Excavatum, a condition in which your chest is visibly sunken, can be corrected through both open and minimally invasive surgery (MARPE). Studies show about 86% to 98.1% of people see functional improvements after surgery that includes better heart and lung fitness six to twelve months after the operation. As a bonus, around half of those who had previously experienced a heart condition known as mitral valve prolapse related to pectus excavatum see resolution following surgical treatment.
Pectus Carinatum
Pectus Carinatum is a condition where your chest appears to jut outward. Minimally invasive surgery is still being researched for this condition, but traditional surgery based on modified Ravitch repair principles proves effective. Results from these surgeries have shown improvements in appearance and symptom relief in both pectus carinatum and pectus excavatum cases. Also, bracing treatment can cause anatomical changes in 2 to 3 months, but this type of treatment usually lasts 2 to 2.5 years. Some reports indicate that the bracing device can be uncomfortable to use.
Poland Syndrome
For Poland Syndrome, a condition affecting one side of the body, how well you do depends on your age, gender, severity of your physical characteristics, whether you have cancer, and the type of surgical reconstruction performed if necessary.
Sternal Clefts
Sternal cleft, a rare congenital disorder, carries a prognosis that depends on the specific type of defect, the patient’s age, and any other associated health conditions. Superior sternal clefts, clefts that affect the upper part of the chest, are often isolated and do not significantly affect heart function, making their prognosis generally good. Timing can influence the prognosis, with ideally timed surgeries in the neonatal period leading to better outcomes. Survival more depends on any additional health anomalies that exist alongside the sternal cleft.
Ectopia Cordis
Ectopia cordis, a condition where the heart is located outside the chest, typically has a poor prognosis. Forms such as thoracic ectopia cordis and associated complex heart defects have the worst outcomes. However, thoracoabdominal ectopia cordis, where the heart is located partly in the thorax and partly in the abdomen, generally has a better prognosis due to the heart’s correct rotation.
Jeunes Syndrome
Jeunes Syndrome generally has a poor prognosis, with a reported mortality rate of 60% to 80%. However, in some treatment centers, mild cases have shown a 50% survival rate following surgery. The chance of survival may improve as the patient gets older.
Jarcho-Levin syndrome
For Jarcho-Levin syndrome, a rare genetic disorder characterized by abnormalities in the bones of the spine and rib cage, the prognosis depends on the specific subtype. Spondylothoracic dysostosis is often considered lethal, and surgery does not usually help, though in some instances, mild cases have seen a survival rate of up to 56% with aggressive medical treatments targeting respiratory function. Spondylocostal dysostosis carries a better prognosis, particularly with VEPTR surgery, which helps correct abnormalities in the spine and thorax. Both types of the disorder often include normal intellectual development, and patients that reach six months of age generally see improved prognosis.
Possible Complications When Diagnosed with Chest Wall Deformities
For Pectus Excavatum, complications linked to any chest surgery, like bleeding, infections at the surgical site, pneumothorax (collapsed lung), etc., are just as common in both open and MARPE procedures. The complication rate for the Nuss procedure—a treatment for this condition—is 3.8%. The usual ailment after the surgery is the recurrence of the pectus excavatum condition (2 to 37%), with an even higher chance after open surgery. This is due to disruption during the operation, leading to specific chest deformities in kids under four. Other risk factors for its recurrence include underlying tissue disorders and early removal of the corrective bar. The significant complication related to the MARPE procedure is bar displacement (5.7 to 12% cases).
- Surgical site infections
- Bleeding
- Pneumothorax or collapsed lung
- Pectus excavatum recurrence
- Asphyxiating thoracic dystrophy in children under four
- Bar displacement in MARPE procedure
In Pectus Carinatum, similar complications to pectus excavatum can occur related to the modified Ravitch procedure. However, reducing the resection of costal cartilage with intact growth centers decreases the recurrence rates. Using braces for treatment has a recurrence risk of 5 to 15%. In rare cases, some people might not tolerate the brace well.
- Recurrence of pectus carinatum
- Poor tolerance to brace treatment
In Poland Syndrome, the complications vary widely depending on the individual’s phenotype, associated anomalies, and the specific repair surgery. In females, the risk of developing breast cancer is a significant concern.
In Sternal Clefts, associated anomalies rather than the cleft itself pose the main risk. Post-surgical cardiac compression is the foremost life-threatening complication after repair surgeries.
- Post-surgical cardiac compression
- Associated anomalies
In dealing with Ectopia Cordis, infection, heart failure, and low oxygen levels in the blood are reported as main causes of death.
- Infection
- Heart failure
- Low oxygen levels in the blood
Jeune Syndrome primarily leads to death due to respiratory failure. Around 30% of cases could develop terminal kidney disease. Other anomalies may include those of the liver, pancreas, and retina. Death is most frequently reported in the first year of life, with risks gradually decreasing with age.
- Respiratory failure
- Development of terminal kidney disease
- Liver, pancreatic, and retinal anomalies
In Jarcho-Levin syndrome, the leading causes of death are respiratory complications, heart failure, and high blood pressure in the lungs.
- Respiratory complications
- Heart failure
- High blood pressure in the lungs
Recovery from Chest Wall Deformities
Pectus Excavatum is a condition where your chest appears sunken due to a deformation in the chest bones and cartilage. After the surgical intervention to correct this condition, there is some general care needed. These include pain management, keeping an eye on the surgical wound and any fluid draining from it, as well as watching out for any possible complications. Using a tool called a spirometer (a device to measure how much air you are breathing in and out), and performing respiratory exercises, is very important. Depending on which surgical method was used – open surgery or a minimally invasive repair – the care you need might differ slightly.
In open surgery, you’re encouraged to start walking regularly soon. In contrast, after the minimally invasive operation, you should take smaller steps and gradually increase this with time, while making sure that the surgical bar inserted during surgery does not rotate. Typically, you can go home between 3 to 5 days after the operation. Exercises to strengthen the chest, limbs and abdomen muscles, and to improve posture, are important as part of the recovery process. You should avoid lifting heavy weights for at least eight weeks and start light exercises around four weeks after surgery if open surgery was done. If the minimally invasive technique was used, you can start light exercises around 12 weeks after the operation.
In Pectus Carinatum, a condition where your chest appears protruded or pushed out, the care after surgery is the same as the open surgery in Pectus Excavatum. Here, you can start lifting light weights around three weeks after the operation, and start gym training around five months after surgery. If a metal strut was used during the operation, it could typically be removed four months later. Regular physical therapy focusing on strengthening the biceps, deltoids, and abdominal muscles can be beneficial.
In Jeunes Syndrome, a rare disorder affecting the bones in your chest, the frequency of your follow-ups and the need for further tests or studies would depend on your age.
In other conditions like Poland Syndrome (characterized by underdevelopment or absence of chest muscles on one side of the body), Sternal Clefts (a rare condition where the breastbone is split), Ectopia Cordis (a condition where the heart is located outside of the chest), and Jarcho-Levin syndrome (a disorder characterized by abnormal formation of bones in the spine and rib cage), the care needed after surgery and the rehabilitation are determined on a case by case basis.
Preventing Chest Wall Deformities
Chest wall deformities are conditions that are not commonly known or understood by most people because they are relatively rare. These abnormalities often have a genetic component, meaning that they can run in families. It’s crucial for patients and their family members to receive genetic counseling. This is a process where a healthcare professional helps people understand and adapt to the medical, psychological and familial implications of genetic contributions to these conditions.
Knowing about these genetic risks will shed light on whether other family members could be affected, or if the patient’s future children could inherit the condition. In treating these conditions, every patient’s case is unique. Therefore, individual education plans for each patient are crucial. These plans would take into consideration details such as the likely outcome of the condition and the necessary steps for recovery, especially when surgery is involved.