Pectus Excavatum: Symptoms, Types, Causes and Treatment

Pectus excavatum, often called “sunken chest” or “funnel chest,” is the most common congenital chest wall deformity. While sometimes dismissed as a cosmetic issue, this condition can have real physical and psychological effects. In this article, we’ll explore the symptoms, types, causes, and treatment options for pectus excavatum, using the latest research to provide an evidence-based and reader-friendly overview.

Symptoms of Pectus Excavatum

Pectus excavatum symptoms can range from virtually unnoticeable to severely impacting a person’s quality of life. Many people experience a mix of physical, emotional, and social effects. Recognizing the full spectrum of symptoms is key to timely diagnosis and effective treatment.

Symptom	Description	Severity Variability	Sources
Exercise intolerance	Reduced stamina, fatigue during activity	Mild to severe	1 2 3 4 5 8 11
Shortness of breath	Breathlessness, especially with exertion	Mild to severe	1 2 3 4 5 8 11
Chest pain	Discomfort or pain in chest area	Intermittent	1 2 5 8
Palpitations	Noticeable irregular or rapid heartbeats	Occasional	2 5 6 8
Psychological distress	Self-consciousness, anxiety, low self-esteem	Varies	8 11 15

Table 1: Key Symptoms

Physical Symptoms

Many patients report tiredness, reduced endurance, and shortness of breath—symptoms often blamed on being “out of shape,” but in reality, these are linked to the chest wall’s impact on the heart and lungs. Exercise intolerance is particularly common, with some patients avoiding sports or physical education altogether. Chest pain and palpitations are also reported, especially during physical activity or periods of rapid growth 1 2 3 4 5 8 11.

Cardiopulmonary Symptoms

The sunken sternum can compress the heart and lungs, sometimes diminishing pulmonary function, particularly in more severe cases. Pulmonary function tests often reveal mildly decreased lung volumes, airway obstruction, or restrictive syndrome 1 3 4 8. Mitral valve prolapse and other cardiac abnormalities are found in a subset of patients, which can contribute to palpitations or chest discomfort 1 6.

Psychological and Social Effects

The psychological impact shouldn’t be underestimated. Self-consciousness about chest appearance can lead to anxiety, social withdrawal, or low self-esteem—sometimes even more distressing than the physical issues 8 11 15. Adolescents, in particular, may struggle with body image and social participation.

Symptom Progression and Age

Symptoms can present at any age, but often intensify during adolescence or, in some cases, later in life. Some adults, including seniors, report that symptoms began or worsened in midlife, occasionally leading to significant disability 2 5. This delayed onset can sometimes make diagnosis and treatment more challenging.

Types of Pectus Excavatum

Pectus excavatum isn’t a one-size-fits-all condition. Its appearance and severity can vary greatly from person to person. Understanding the different types helps tailor treatment and set realistic expectations.

Type	Defining Feature	Typical Age of Onset	Sources
Symmetrical	Depression is centered and even	Birth or adolescence	1 9
Asymmetrical	Depression is off-center or uneven	Birth or adolescence	1 6 9
Syndromic	Associated with genetic syndromes	Variable	6 7 9
Isolated	Not linked to other conditions	Variable	6 7 9

Table 2: Types of Pectus Excavatum

By Physical Appearance

• Symmetrical: The most common form, where the sternum is evenly sunken in the middle of the chest.
• Asymmetrical: The depression is more pronounced on one side, causing an uneven chest contour 1 6 9.

By Association

• Isolated: Most cases are isolated, occurring without other health problems.
• Syndromic: Some cases are part of broader genetic syndromes such as Marfan syndrome, Noonan syndrome, or Ehlers-Danlos syndrome. These cases may also involve features like joint hypermobility, long limbs, or cardiac conditions 6 7 9.

By Severity

Severity is often measured using the Haller Index (the ratio of the width of the chest to the distance between the sternum and spine on imaging). A higher index indicates a more severe deformity. Severity helps guide treatment decisions but does not always correlate directly with symptoms 1 4 9.

Classification Challenges

Currently, there is no universally agreed-upon system to classify all cases, and the diversity in shape and severity adds complexity to both diagnosis and management. Improved classification systems based on objective measurements are still in development 9.

Causes of Pectus Excavatum

The origins of pectus excavatum are still being unraveled. Both genetic and environmental factors may play roles, and the underlying mechanisms remain a subject of ongoing study.

Cause/Factor	Explanation	Evidence Level	Sources
Genetic predisposition	Family history, possible inheritance	Strong	6 7 9 10
Cartilage overgrowth	Abnormal costal cartilage development	Hypothesized	9 10
Connective tissue disorders	Marfan, Ehlers-Danlos, Noonan syndromes	Strong	6 7 9
Idiopathic	No clear cause in most cases	Common	6 8 9 10

Table 3: Causes and Contributing Factors

Genetic and Familial Factors

A family history of pectus excavatum is common. Studies have documented cases within multiple generations and suggested various inheritance patterns, including autosomal dominant, autosomal recessive, and X-linked recessive. However, most cases appear to be multifactorial rather than following simple Mendelian genetics 6 7 9.

Connective Tissue Abnormalities

Pectus excavatum is frequently seen in people with connective tissue disorders such as Marfan syndrome, Ehlers-Danlos syndrome, and Noonan syndrome. These conditions can affect the structure and integrity of supporting chest wall tissues, increasing the risk of deformity 6 7 9.

Cartilage Overgrowth Theory

The leading hypothesis is that abnormal growth or structural issues in the costal (rib) cartilages push the sternum inward. This concept explains both isolated and syndromic forms, but the exact molecular or biomechanical defect remains unclear. Recent research points toward defects in hyaline cartilage structure and function as a primary culprit 9 10.

Idiopathic Cases

In most patients, no single cause can be identified. These idiopathic cases likely result from a complex interplay of genetic, developmental, and possibly environmental factors 6 8 9 10.

Syndromic Versus Isolated

If pectus excavatum is accompanied by other signs such as long limbs, scoliosis, joint hypermobility, or heart problems, evaluation for a broader syndrome is recommended. In isolated cases, no additional symptoms or syndromes are present 6 7 9.

Treatment of Pectus Excavatum

Treating pectus excavatum is tailored to each individual’s symptoms, severity, age, and personal goals. While some require only reassurance and monitoring, others benefit from surgical or non-surgical interventions. Psychosocial support is also an important aspect of holistic care.

Treatment	Approach/Method	Best Candidates	Sources
Surgical repair	Nuss or Ravitch procedure	Severe/symptomatic, older children/adults	1 2 3 11
Vacuum bell therapy	External suction device	Mild/moderate, flexible chest wall, younger patients	12 13 14
Hyaluronic acid injection	Cosmetic filler	Mild cases, adults, cosmetic focus	15
Observation	No intervention, periodic monitoring	Asymptomatic, mild deformity	1 8 11
Psychosocial support	Counseling, support groups	All patients as needed	8 11 15

Table 4: Treatment Options

Surgical Treatment

Nuss Procedure: A minimally invasive method where a curved metal bar is inserted behind the sternum to pop it outward. This is the most common surgical repair, especially for children and adolescents. The bar stays in place for several years before removal. The procedure is associated with improved cardiopulmonary function and chest wall motion 3 11.

Ravitch Procedure: An open surgery involving removal of abnormal cartilage and repositioning of the sternum. It is sometimes chosen for complex or recurrent cases, or when the Nuss procedure is not suitable 1 2 11.

Indications for Surgery: Surgery is considered when symptoms are moderate to severe, the Haller Index is high (usually >3.25), there’s evidence of cardiac or pulmonary compression, or if psychosocial distress is significant 1 2 11.

Results: Many patients experience improved exercise tolerance, relief of symptoms, and a better quality of life after surgery 2 3 11.

Non-Surgical Treatment

Vacuum Bell Therapy: A suction cup-like device worn over the chest wall to gradually lift the sternum. Best results are seen in younger patients with flexible chest walls and mild to moderate deformity. Consistent use (at least 12 months) and less severe initial depression predict a better outcome. Around one-third of patients can achieve excellent or good correction 12 13 14.

Hyaluronic Acid Injection: For adults with mild, nonfunctional deformities, injectable fillers can improve chest appearance and self-esteem. This minimally invasive option is mainly cosmetic and well-tolerated, with effects lasting up to two years 15.

Observation and Support

Observation: For mild, asymptomatic cases, no active intervention may be necessary. Regular monitoring helps ensure that symptoms don’t develop or worsen 1 8 11.

Psychosocial Support: Counseling and support groups can be invaluable for adolescents and adults coping with body image concerns, social anxiety, or adjustment to treatment 8 11 15.

Individualized Approach

Treatment decisions should be based on a combination of symptom severity, chest wall flexibility, age, personal preferences, and psychosocial factors. Multidisciplinary teams—including surgeons, pulmonologists, cardiologists, and psychologists—can provide the most comprehensive care 1 8 11.

Conclusion

Pectus excavatum is more than a cosmetic issue. Its symptoms, types, and causes are diverse, and treatment is increasingly personalized and evidence-based. Key takeaways include:

• Symptoms range from exercise intolerance and shortness of breath to chest pain and psychological distress, with severity varying widely 1 2 3 4 5 8 11 15.
• Types include symmetrical, asymmetrical, syndromic, and isolated forms, with severity measured by indices like the Haller Index 1 6 7 9.
• Causes are multifactorial, involving genetics, cartilage abnormality, and connective tissue disorders, though most cases are idiopathic 6 7 9 10.
• Treatment options include surgical repair, vacuum bell therapy, fillers for cosmetic improvement, observation, and psychosocial support, selected based on individual needs 1 2 3 8 11 12 13 14 15.

Understanding the full scope of pectus excavatum empowers patients and providers to make informed, compassionate choices about care and quality of life.