What is Pectus Excavatum ?

Pectus excavatum, often referred to as "sunken chest" or "funnel chest," is a congenital chest wall deformity characterized by a concave depression in the sternum (breastbone). This condition occurs when the ribs and sternum grow abnormally, causing the chest to cave inward. While some people with pectus excavatum have only a mild indentation, others may experience more severe cases that can affect their heart and lung function. It’s a relatively common condition, affecting about 1 in 300 to 400 births, and is more prevalent in males than females.

In this blog, we will delve deeper into what pectus excavatum is, its causes, and symptoms, how it is diagnosed, and the various treatment options available for those affected by it.

Understanding Pectus Excavatum

What is Pectus Excavatum? Pectus excavatum is a deformity of the chest wall that results in a sunken or caved-in appearance of the sternum. The severity of the deformity can vary significantly between individuals, ranging from mild to severe. While some individuals may have a cosmetic concern due to the appearance of the chest, others may experience physiological issues, particularly related to breathing and heart function.

This condition usually becomes more noticeable during adolescence when the growth spurts occur. Although it is often present at birth, it can become more pronounced as a child grows older. In rare cases, pectus excavatum can worsen with age and result in significant discomfort or health complications.

Causes of Pectus Excavatum

The exact cause of pectus excavatum is not well understood. However, researchers believe that genetic factors play a key role in the development of this condition, as it tends to run in families. Here are some factors that may contribute to the development of pectus excavatum:

  • Abnormal Rib and Cartilage Growth : The primary cause of pectus excavatum is thought to be abnormal growth of the rib cartilage that attaches the ribs to the sternum. This overgrowth causes the sternum to be pushed inward, resulting in the characteristic sunken appearance.
  • Genetic Predisposition : Pectus excavatum often occurs in individuals with a family history of the condition, indicating that there may be a genetic component. Specific genetic mutations associated with chest wall deformities have been identified, but the exact mechanisms are still being studied.
  • Connective Tissue Disorders : People with certain connective tissue disorders, such as Marfan syndrome, Ehlers-Danlos syndrome, or scoliosis, are more likely to develop pectus excavatum. These disorders weaken the connective tissues that support the body’s structure, potentially contributing to chest deformities.
  • Associated Conditions : Pectus excavatum is sometimes associated with other congenital conditions, such as Poland syndrome (absence or underdevelopment of chest muscles) and congenital heart defects, though the exact link remains unclear.

Symptoms of Pectus Excavatum

The symptoms of pectus excavatum can vary depending on the severity of the condition. Many individuals with mild cases may experience no symptoms beyond the cosmetic appearance of a sunken chest. However, more severe cases may lead to physical discomfort and complications. Here are some common symptoms:

  • Cosmetic Concerns : In most cases, the primary concern is the physical appearance of the chest, which can lead to self-esteem and body image issues, particularly during adolescence.
  • Shortness of Breath : As the sternum presses on the lungs and reduces the available space, individuals may experience difficulty breathing, especially during physical exertion or exercise.
  • Chest Pain : Some people with pectus excavatum experience chest pain due to the abnormal pressure on the ribs, sternum, and surrounding tissues.
  • Reduced Exercise Tolerance : Individuals with more severe cases may find that they tire easily during physical activities due to restricted lung capacity and diminished cardiovascular function.
  • Heart Palpitations : The inward depression of the sternum can sometimes compress the heart, leading to irregular heartbeats or palpitations. In severe cases, the heart’s ability to pump blood efficiently may be affected.
  • Respiratory Infections : In rare cases, individuals with pectus excavatum may experience frequent respiratory infections due to compromised lung function.

Diagnosis of Pectus Excavatum

Diagnosis of pectus excavatum is typically straightforward and based on a physical examination. However, doctors may perform additional tests to assess the severity of the condition and determine whether it is affecting the function of the heart and lungs. Here’s how pectus excavatum is diagnosed:

  • Physical Examination : The doctor will visually examine the chest to observe the depth and extent of the depression. In mild cases, this may be the only diagnostic method required.
  • Imaging Tests : X-rays, CT scans, and MRI scans are commonly used to measure the depth of the sternum’s depression and assess any potential impact on internal organs. A CT scan can also be used to calculate the "Haller Index," which measures the ratio of the chest’s width to its depth. A higher Haller Index indicates a more severe deformity.
  • Pulmonary Function Tests : These tests assess lung capacity and the ability to move air in and out of the lungs. Individuals with severe pectus excavatum may have reduced lung function, particularly during exercise.
  • Echocardiogram : This ultrasound test is used to evaluate the function of the heart and determine if the deformity is compressing the heart or affecting blood flow. It can also detect any associated heart abnormalities.
  • Electrocardiogram (ECG) : An ECG may be performed to check for any abnormal heart rhythms or issues related to heart function that may be caused by the compression of the chest.
Treatment Options for Pectus Excavatum

Treatment for pectus excavatum depends on the severity of the condition and whether it is causing physical or psychological symptoms. For mild cases, treatment may not be necessary. However, in moderate to severe cases, medical intervention may be required.

Non-Surgical Treatments
  • Physical Therapy and Exercise : In mild cases, physical therapy and exercises aimed at strengthening the chest muscles can improve posture and minimize the appearance of the deformity. Exercises such as swimming, yoga, and strength training can help in building chest muscles and improving lung capacity.
  • Vacuum Bell Therapy : This non-invasive treatment involves using a vacuum bell device, which creates suction over the chest, gradually pulling the sternum outward. This treatment is generally used in children and adolescents and may take several months or years for significant improvement.
Surgical Treatments
  • Nuss Procedure : The Nuss procedure is a minimally invasive surgery where a curved metal bar is inserted under the sternum to push it outward. The bar remains in place for 2 to 3 years before being removed. This procedure is commonly performed in adolescents and young adults and has a high success rate. It is preferred due to its less invasive nature compared to other surgical options.
  • Ravitch Procedure : The Ravitch procedure involves the removal of abnormal cartilage and the repositioning of the sternum. This is a more invasive surgery than the Nuss procedure and is typically reserved for more severe cases or patients who may not be suitable candidates for the Nuss procedure.
Psychological Support

For many individuals, especially adolescents, the appearance of pectus excavatum can lead to significant self-esteem issues. Counseling or psychological support may be helpful for those struggling with body image concerns, especially if surgery is not an immediate option.

Living with Pectus Excavatum

For those with mild pectus excavatum, the condition may not significantly impact daily life. However, in moderate to severe cases, it’s essential to monitor any symptoms related to heart or lung function. Regular check-ups and following a healthy lifestyle can help individuals manage their condition more effectively. Physical activity, such as cardiovascular exercises and strength training, can help improve lung capacity and posture, although strenuous activities should be done under medical guidance if there are concerns about heart function.

There is no way to prevent a collapsed lung, although the risk of its recurrence may be reduced. In case a person develops spontaneous pneumothorax there is fair possibility of its recurring within 2 years. One can reduce the chances of recurrence to some extent by:

Conclusion

Pectus excavatum is a chest wall deformity that can range from mild to severe, affecting both the appearance and function of the chest. While it is not life-threatening in most cases, it can lead to complications such as reduced lung capacity and heart compression in more severe cases. Thankfully, there are several treatment options available, including non-invasive methods like physical therapy and vacuum bell therapy, as well as surgical procedures like the Nuss and Ravitch techniques.

Individuals with pectus excavatum should consult a healthcare provider, particularly a specialized Pectus Excavatum Surgeon, to determine the most suitable treatment approach. If the condition is impacting their quality of life, addressing it with the right treatment can significantly enhance chest appearance and function, enabling individuals to lead healthy, active lives.

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