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Funnel Chest
Chest Funnel

A funnel chest, more commonly known as pectus excavatum, is a congenital deformity characterized by a depression of the sternal bone. The etiology, as well as risk factors, remain unclear. Signs and symptoms may not be present initially, but the eventual compression of the heart in adulthood can cause marked symptoms, especially in the absence of clinical suspicion about funnel chest being the underlying cause.

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Presentation

Funnel chest (medically termed pectus excavatum) is considered to be a rather common congenital disease, seen in 1 in 1,000 live births. In the United States, 1 in 300 Caucasian children is diagnosed with a funnel chest [1] [2]. A significant predilection toward male gender has been reported, with the male-to-female ratio ranging from 2:1 to even 9:1 [2] [3]. Pectus excavatum rarely causes symptoms in childhood and infancy (which is why physicians often inform parents that there is no reason for concern and that the problem is cosmetic in nature only). But many reports have illustrated the importance of this condition in the pathogenesis of debilitating cardiopulmonary symptoms [1] [2] [4] [5] [6]. The reason why symptoms do not appear until adulthood, however, is unexplained as yet. The most probable theory suggests the loss of chest wall elasticity in adulthood, which leads to reduced compliance and direct compression of the depressed sternum on the cardiac structures, specifically the right ventricle [2]. As a result, previously healthy patients may complain of dyspnea, shortness of breath, palpitations (particularly after exercise), persistent fatigue and asthma-like symptoms [1] [3] [6] [7]. If the diagnosis is not made, prolonged compression of the chest can cause reduced lung volume, cardiac compression and valvular heart disease (mitral regurgitation or prolapse of the mitral valve) [2] [7]. Funnel chest is often associated with scoliosis (in about 15% of cases), while connective tissue disorders, such as Marfan syndrome and Ehlers Danlos syndrome may also be associated with it [2] [6] [8].

Workup

The initial diagnosis of a funnel chest is made during a physical examination as early as infancy when inspection and palpation of the chest wall confirms a cup-shaped concavity in the sternum [1] [2]. The concavity is well defined, deep and more prominently involves the lower portion of the sternal bone [1] [2]. Depression of 4th-7th costal cartilages can be observed in a significant number of individuals, in which case the concavity might be broader [2]. Other notable findings include a pot-belly posture, forward-drifted shoulders, a heart murmur on cardiac auscultation and arrhythmia in severe cases [1] [2]. On the other hand, when previously healthy patients describe cardiopulmonary signs and symptoms during history taking, an earlier finding of a funnel chest must raise clinical suspicion toward this disorder as the underlying cause. Family history, an integral part of the patient interview, is also an important feature, as up to 43% of pectus excavatum cases have a positive family history for the condition [1]. Imaging studies, however, are the gold standard in confirming congenital abnormalities of the chest wall, and either computed tomography (CT) or magnetic resonance imaging (MRI) can be used [2] [3] [8], which both show the abnormal site of the sternum and its compression of the heart. Pulmonary function tests, electrocardiography (ECG) and echocardiography (either transthoracic or transesophageal) are recommended during workup, in order to assess the function and structure of the heart.

Treatment

Treatment options for funnel chest depend on the severity of the condition and the presence of symptoms. Mild cases may not require intervention, while moderate to severe cases might benefit from surgical correction. The Nuss procedure, a minimally invasive surgery, is commonly used to correct the deformity by placing a curved metal bar under the sternum to elevate it. Another option is the Ravitch procedure, which involves removing cartilage and repositioning the sternum.

Prognosis

The prognosis for individuals with funnel chest is generally favorable, especially when treated appropriately. Surgical correction can significantly improve both the cosmetic appearance and functional capacity of the chest. Most patients experience a marked improvement in symptoms and quality of life post-surgery. However, as with any surgical procedure, there are potential risks and complications that should be discussed with a healthcare provider.

Etiology

The exact cause of funnel chest is not well understood, but it is believed to result from abnormal growth of the rib cartilage, which pushes the sternum inward. Genetic factors may play a role, as the condition often runs in families. It is not caused by any external factors or lifestyle choices.

Epidemiology

Funnel chest is the most common congenital chest wall deformity, affecting approximately 1 in 300 to 1 in 400 individuals. It is more prevalent in males than females, with a male-to-female ratio of about 3:1. The condition can be present at birth but often becomes more noticeable during adolescence.

Pathophysiology

The pathophysiology of funnel chest involves the abnormal development of the costal cartilages, which connect the ribs to the sternum. This abnormality causes the sternum to be displaced posteriorly, creating a concave appearance. In severe cases, this can compress the heart and lungs, leading to functional impairments.

Prevention

Currently, there are no known methods to prevent funnel chest, as it is a congenital condition. Early detection and monitoring can help manage symptoms and determine the need for intervention. Genetic counseling may be beneficial for families with a history of the condition.

Summary

Funnel chest, or pectus excavatum, is a common congenital deformity characterized by a sunken breastbone. While it can cause physical and psychological symptoms, effective surgical treatments are available. Understanding the condition's presentation, workup, and treatment options can aid in managing and improving patient outcomes.

Patient Information

If you or your child has been diagnosed with funnel chest, it's important to understand that this is a common condition with effective treatment options. While the appearance of the chest may be concerning, many individuals lead healthy, active lives. If symptoms such as chest pain or difficulty breathing occur, consult with a healthcare provider to discuss potential interventions. Surgical options can improve both the function and appearance of the chest, enhancing quality of life.

References

  1. Brochhausen C, Turial S, Müller FKP, et al. Pectus excavatum: history, hypotheses and treatment options. Interact Cardiovasc Thorac Surg. 2012;14(6):801-806.
  2. Jaroszewski D, Notrica D, McMahon L, Steidley DE, Deschamps C. Current management of pectus excavatum: a review and update of therapy and treatment recommendations. J Am Board Fam Med. 2010;23(2):230-239.
  3. Robbins LP. Pectus excavatum. Radiol Case Rep 2011;6(1):460
  4. Kelly RE Jr. Pecus excavatum: historical background, clinical picture, preoperative evaluation and criteria for operation. Semin Pediatr Surg. 2008;17(3):181-193.
  5. Tocchioni F, Ghionzoli M, Messineo A, Romagnoli P. Pectus Excavatum and Heritable Disorders of the Connective Tissue. Pediatr Rep. 2013;5(3):e15.
  6. Winkens R, Guldemond F, Hoppener P, Kragten H, van Leeuwen Y. Pectus excavatum, not always as harmless as it seems. BMJ Case Rep. 2009;2009:bcr10.2009.2329.
  7. Harris C, Croce B, Cao C. Pectus excavatum. Annals of Cardiothoracic Surgery. 2016;5(5):528.
  8. Oncel M, Sunam GS, Tezcan B, Gurol Akyol K, Dereli Y. Clinical experience of repair of pectus excavatum and carinatum deformities. Cardiovascular Journal of Africa. 2013;24(8):318-321.
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