Pectus Excavatum: Symptoms, Causes, Treatment

What are the symptoms of pectus excavatum?

Pectus excavatum, also known as “funnel chest,” is a condition where the breastbone (sternum) and surrounding ribs are sunken inward, creating a depression in the chest. The symptoms of pectus excavatum can vary in severity and impact. Here’s an overview of the common symptoms:

1. Physical Appearance

• Depressed Sternum:
• Visible Depression: The most noticeable symptom is a concave or sunken appearance of the chest, particularly around the sternum. This depression may be more apparent when the individual is standing up.

2. Respiratory Symptoms

• Breathing Difficulties:
• Shortness of Breath: Some individuals may experience shortness of breath, especially during physical activities or exertion.
• Reduced Lung Capacity: In severe cases, the inward depression can restrict lung expansion, leading to decreased lung capacity and breathing difficulties.

3. Cardiovascular Symptoms

• Heart Impact:
• Palpitations: The condition may occasionally cause palpitations or an irregular heartbeat, though this is less common.
• Reduced Cardiac Function: In severe cases, the compression of the heart due to the chest wall deformity may affect cardiac function, leading to symptoms such as fatigue or reduced exercise tolerance.

4. Chest Pain and Discomfort

• Localized Pain:
• Chest Pain: Some individuals may experience localized chest pain or discomfort, particularly if there is associated muscle strain or if the condition is affecting the heart or lungs.

5. Psychological and Social Impact

• Body Image Issues:
• Self-Esteem: The appearance of the chest can affect self-esteem and body image, particularly in adolescents or individuals who are self-conscious about their appearance.
• Social Impact: The condition may also lead to social or emotional concerns due to the visible deformity.

6. Associated Conditions

• Potential Link:
• Scoliosis: Pectus excavatum may be associated with scoliosis or other spinal deformities.
• Genetic Syndromes: In some cases, it may be part of a genetic syndrome or connective tissue disorder, though this is less common.

Summary

The primary symptoms of pectus excavatum include a visible depression of the sternum, potential respiratory difficulties, and occasionally cardiovascular symptoms. The condition can also impact self-esteem and social interactions due to its appearance. In severe cases, pectus excavatum may affect lung and heart function. If there are concerns about symptoms or the impact of the condition, consulting a healthcare provider is important for evaluation and management.

What are the causes of pectus excavatum?

Pectus excavatum, or “funnel chest,” is a condition characterized by a sunken or depressed sternum and chest wall. The exact causes of pectus excavatum are not always well understood, but several factors are believed to contribute to the development of this condition:

1. Genetic Factors

• Family History:
• Inheritance: Pectus excavatum can run in families, suggesting a genetic component. It may be more common in individuals with a family history of the condition or other chest wall deformities.

2. Abnormal Cartilage Growth

• Cartilage Overgrowth:
• Abnormal Growth: The condition is thought to result from abnormal growth of the cartilage that connects the ribs to the sternum. This excessive cartilage growth can cause the sternum to be pushed inward.

3. Developmental Factors

• Growth Spurts:
• Puberty: Pectus excavatum often becomes more apparent during periods of rapid growth, such as adolescence. The condition may be related to growth patterns during puberty when the chest wall is developing.

4. Connective Tissue Disorders

• Associated Conditions:
• Syndromes: In some cases, pectus excavatum can be associated with connective tissue disorders or genetic syndromes, such as Marfan syndrome or Ehlers-Danlos syndrome. These conditions can affect the structure and elasticity of connective tissues, including those in the chest wall.

5. Idiopathic Factors

• Unknown Causes:
• Unclear Etiology: In many cases, the exact cause of pectus excavatum remains unclear. It may occur without an identifiable underlying condition or genetic syndrome.

6. Other Factors

• Potential Influence:
• Environmental and Mechanical Factors: While less commonly associated, some environmental or mechanical factors might contribute to the development of pectus excavatum. These factors are not well-defined and are less likely to be the primary cause.

Summary

Pectus excavatum is primarily thought to result from abnormal cartilage growth and genetic factors. It often becomes noticeable during growth spurts in adolescence. The condition can sometimes be associated with connective tissue disorders or genetic syndromes. In many cases, the exact cause is unknown. If there are concerns about the condition or its potential causes, consulting a healthcare provider is important for further evaluation and management.

How is the diagnosis of pectus excavatum made?

The diagnosis of pectus excavatum is typically made through a combination of clinical examination, imaging studies, and sometimes additional tests. Here’s a detailed overview of the diagnostic process:

1. Clinical Examination

• Physical Inspection:
• Visual Assessment: The primary method for diagnosing pectus excavatum is a physical examination, where a healthcare provider visually inspects the chest for the characteristic sunken appearance of the sternum and chest wall.
• Palpation: The provider may palpate the chest to assess the depth and extent of the depression and to determine if there is any associated discomfort.

2. Imaging Studies

• Chest X-Ray:
• Initial Imaging: A chest X-ray is often the first imaging test used to visualize the bony structures of the chest and confirm the presence of a depressed sternum. It helps assess the degree of deformity and rule out other potential conditions.
• Computed Tomography (CT) Scan:
• Detailed Imaging: A CT scan provides a more detailed view of the chest wall and can help in assessing the severity of the deformity. It is particularly useful for planning surgical intervention if needed.

3. Additional Tests

• Pulmonary Function Tests:
• Assessing Respiratory Function: If there are symptoms of respiratory difficulties or if the condition appears to affect lung function, pulmonary function tests may be conducted to evaluate breathing capacity and lung health.
• Cardiac Evaluation:
• Heart Assessment: In cases where there are symptoms affecting the heart, such as palpitations or reduced exercise tolerance, additional cardiac evaluation may be performed. This might include an echocardiogram or other cardiac imaging tests.

4. Differential Diagnosis

• Rule Out Other Conditions:
• Other Chest Wall Deformities: The healthcare provider may need to differentiate pectus excavatum from other chest wall deformities, such as pectus carinatum (protruding chest), or other conditions that could present with similar symptoms.

5. Severity Assessment

• Severity Classification:
• Grading: The severity of pectus excavatum can be classified based on how deeply the sternum is depressed and the impact on respiratory and cardiac function. This classification helps guide treatment decisions.

Summary

The diagnosis of pectus excavatum involves a physical examination to assess the appearance and extent of the chest wall depression. Imaging studies, such as chest X-ray and CT scan, provide detailed information on the bony structures and help evaluate the severity of the condition. Additional tests may be performed to assess the impact on respiratory and cardiac function. Accurate diagnosis and severity assessment are essential for determining the appropriate treatment plan.

What is the treatment for pectus excavatum?

Treatment for pectus excavatum depends on the severity of the condition, the presence of symptoms, and the impact on the individual’s quality of life. Here’s an overview of the treatment options:

1. Non-Surgical Treatment

• Orthotic Bracing:
• Compression Brace: A non-surgical approach often involves the use of a custom-fit compression brace. The brace applies pressure to the depressed area of the chest, gradually reshaping the chest wall.
• Duration: Bracing is most effective in children and adolescents whose bones are still growing. Treatment typically involves wearing the brace for several hours a day over a period of months to years, depending on the severity and individual response.

2. Surgical Treatment

• Surgical Correction:
• Indications: Surgery may be considered for individuals with severe pectus excavatum, significant symptoms, or cosmetic concerns that are not adequately managed by bracing. It is also an option if non-surgical methods are ineffective.
• Types of Surgery:
  • Nuss Procedure: This minimally invasive procedure involves placing a metal bar behind the sternum to push it outward. The bar is usually left in place for a few years and then removed.
  • Ravitch Procedure: This is a more invasive surgery where the abnormal cartilage is removed or reshaped, and a support structure may be used to maintain the corrected position of the sternum.

3. Symptomatic Management

• Pain Management:
• Medications: Over-the-counter pain relievers, such as acetaminophen or ibuprofen, can be used to manage any discomfort or pain associated with the condition.
• Physical Therapy:
• Exercise: Physical therapy or exercises may be recommended to improve posture and strengthen the chest muscles, though this does not directly correct the deformity.

4. Psychological Support

• Counseling:
• Emotional Impact: For some individuals, especially adolescents, the appearance of pectus excavatum can affect self-esteem and body image. Psychological support or counseling may be beneficial to address any emotional or psychological concerns.

5. Follow-Up and Monitoring

• Regular Check-Ups:
• Monitoring Progress: Regular follow-up appointments with a healthcare provider are essential to monitor the progress of treatment, whether non-surgical or surgical.

Summary

Treatment for pectus excavatum varies based on the severity of the condition and individual needs. Non-surgical options, such as orthotic bracing, can be effective, especially in growing children and adolescents. Surgical options are considered for severe cases or when non-surgical methods are insufficient. Symptomatic management, follow-up care, and psychological support can also play important roles in the overall treatment plan. Consulting with a healthcare provider or specialist is essential to determine the most appropriate approach for managing pectus excavatum.