Pectus Excavatum

Pectus Excavatum

Article
Bone, Muscle, & Joint
Diseases & Conditions
+1
Contributed byMaulik P. Purohit MD MPHDec 17, 2018

What are the other Names for this Condition? (Also known as/Synonyms)

  • A Dent in the Chest
  • Sunken Chest
  • Trichterbrust

What is Pectus Excavatum? (Definition/Background Information)

  • Pectus Excavatum is a common congenital abnormality of unknown cause affecting the ribcage. Children with this condition have a sunken chest appearance, due to an inward growth of the ribs and sternum. A dent or depression is seen on the chest, which may be mild or severe
  • It is also known to occur with other conditions, such as Marfan syndrome, Poland syndrome, scoliosis, and rickets
  • Based on the severity of Pectus Excavatum, there may be heart and lung complications. The individual may also suffer psychological trauma and self-image issues
  • With prolonged treatment and use of surgical procedures (if necessary), the defect can be corrected to a certain extent, which can significantly decrease the burden of the associated signs and symptoms

Who gets Pectus Excavatum? (Age and Sex Distribution)

  • This congenital disorder affects the newborn child (it is present at birth)
  • A male child is affected more often by Pectus Excavatum, than a female child (in a 3:1 ratio)
  • No ethnic or racial predilection is observed

What are the Risk Factors for Pectus Excavatum? (Predisposing Factors)

The risk factors for Pectus Excavatum are:

  • The disorder runs in the families. Children born in families with a medical history of the condition, have a higher risk
  • An increased pressure in the abdominal or pelvic region during pregnancy, due to various factors or medical conditions
  • Mitral valve prolapse is a common heart condition associated with this disorder
  • Those suffering from Marfan syndrome have a greater chance of being affected by Pectus Excavatum
  • Children with spinal muscular atrophy (a genetic disorder of the spine)
  • In rare cases, celiac disease has been associated with Pectus Excavatum

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases ones chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Pectus Excavatum? (Etiology)

  • The exact cause of Pectus Excavatum is uncertain. It can occur spontaneously, by its own, even when there is no suspected reason or causal factor, such as a family history of the disorder, or known congenital abnormalities
  • Excessive growth of the tissues that connect the ribs to the sternum (breastbone), cause the sternum to move or collapse inwards at the center of the chest, giving a hollowed-out (funnel chest) appearance
  • It is reported that the chest abnormality could be a genetic condition. Hence, individuals with a positive family history, may have a high risk
  • However, it has occurred in association with certain medical complications and disorders, such as Marfan syndrome, Poland syndrome, scoliosis, and rickets

What are the Signs and Symptoms of Pectus Excavatum?

In some children with Pectus Excavatum, the chest depression may be mild. However, it may progressively worsen during the preteen years and significantly affect the individual, going into adulthood. Depending on the severity of the condition, compression of internal organs (mainly the heart and lungs) may occur.

Due to this the following signs and symptoms may be observed:

  • Increased heartbeat rate, heart murmur, rapid palpitations
  • Fatigue and tiredness - the individual’s tire easily on slight exercising, or after any physical strain
  • Difficulty breathing, frequent wheezing and coughing
  • Chest pain
  • Respiratory problems and infections that continue to repeat

How is Pectus Excavatum Diagnosed?

A simple physical examination of the chest condition may not be conclusive enough for the physician. In order to understand the extent of the condition and other medical problems associated with Pectus Excavatum, certain diagnostic tests are performed. Such studies also help in assessing the treatment or surgical options, and these tests include:

  • X-ray of the chest: In order to understand the extent of the inward depression and to what extent the heart and lungs have been displaced or compressed
  • CT scan of the chest
  • Tests to assess the lung condition, including lung function test, exercise test
  • Tests to assess the heart condition, including electrocardiogram (ECG) and echocardiogram

The following tests may be conducted to eliminate other related conditions:

  • Metabolic studies, performed as blood tests
  • Lab tests for studying enzyme activities
  • Chromosomal studies, to understand the kind of genetic disorder that may be responsible for the anomaly

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Pectus Excavatum?

Complications of Pectus Excavatum are mainly linked to the extent of the condition and the presence of secondary medical disorders. These include:

  • Compression and displacement of the heart and lungs, due to inwardness of the sternum, are the main complications. The lungs may not have enough space to expand and contract; the heart may be squeezed, decreasing its pumping capacity
  • The individual could suffer serious psychological stress and depression, due to the Sunken Chest condition
  • The disorder may prevent individuals from participating in certain sports activities (especially swimming, running)
  • An abnormal posture may result in improperly aligned joints. This may prevent individuals from performing certain work-related physical activities, such as climbing a ladder, or operating certain machinery types

How is Pectus Excavatum Treated?

The treatment measures for Pectus Excavatum are basically meant to correct the defect; the interventions could be surgical or non-surgical.

Non-surgical procedures include:

  • Using a vacuum force to lift and place the sternum in proper position - this is a recent technique, still in an experimental phase
  • Use of magnets to align the sternum, by inserting one magnet into the chest. This device is worn for a number of years, to gradually get the chest structure into shape
  • Use of prosthetic implants, to superficially fill the dent in the chest. This is similar to using a placebo, and does not relieve any physiological complication. This method is used when the condition is very mild

Surgical methods are mainly used, if the condition is classified as moderate to severe, by the physician. Besides the bone defect, any defective heart-lung condition can also be corrected. In order to obtain the best results, surgery is performed on children and teens, between the ages of 8-18 years.

The surgical procedures include:

  • Ravitch technique: A large incision is made on the chest and the defective shape of the ribcage, is corrected by using metal rods. These are retained, till a proper shape is restored. This method is typically used only for older patients, and is currently, not widely practiced
  • Nuss procedure: This is a less invasive procedure, where steel rods are surgically placed across the width of the chest and left in place for a few years, to help the ribcage develop into a proper shape

How can Pectus Excavatum be Prevented?

  • Currently, the exact cause of Pectus Excavatum is unknown, and it cannot be prevented
  • Genetic testing of the expecting parents (and related family members) and prenatal diagnosis (molecular testing of the fetus during pregnancy) may help in understanding the risks better during pregnancy
  • If there is a family history of the condition, then genetic counseling will help assess risks, before planning for a child

What is the Prognosis of Pectus Excavatum? (Outcomes/Resolutions)

  • Pectus Excavatum can be managed using both invasive and non-invasive techniques. The success of the treatment measures, also depend on the severity of the condition
  • In some individuals, a restoration of the chest profile to near normalcy, may take many years. In case of severe complications affecting the heart and lungs, intensive treatment for a prolonged period of time may be required
  • The prognosis is also influenced by the presence and severity of any associated disease and disorders (such as Marfan’s syndrome, Poland syndrome), which may worsen the outcome

Additional and Relevant Useful Information for Pectus Excavatum:

There are voluntary organizations and support groups that provide help and support to the individuals affected by Pectus Excavatum.

Scoliosis is a common medical disorder characterized by abnormal curvature of the spine; a side to side spinal curve is observed.

The following article link will help you understand scoliosis:

http://www.dovemed.com/diseases-conditions/scoliosis/

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On the Article

Maulik P. Purohit MD MPH picture
Approved by

Maulik P. Purohit MD MPH

Assistant Medical Director, Medical Editorial Board, DoveMed Team

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