Pectus Excavatum

Updated: Aug 14, 2017
  • Author: Andre Hebra, MD; Chief Editor: Girish D Sharma, MD, FCCP, FAAP  more...
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Overview

Background

Pectus excavatum, also known as sunken or funnel chest, is a congenital chest wall deformity in which several ribs and the sternum grow abnormally, producing a concave, or caved-in, appearance in the anterior chest wall. The image below illustrates the typical appearance of this deformity in a 16-year-old boy.

A 16-year-old boy with severe pectus excavatum. No A 16-year-old boy with severe pectus excavatum. Note the appearance of the caved-in sternum and lower ribs.

Pectus excavatum is the most common type of congenital chest wall abnormality (90%), followed by pectus carinatum (5-7%), cleft sternum, pentalogy of Cantrell, asphyxiating thoracic dystrophy, and spondylothoracic dysplasia. Pectus excavatum occurs in an estimated 1 in 300-400 births, with male predominance (male-to-female ratio of 3:1). The condition is typically noticed at birth, and more than 90% of cases are diagnosed within the first year of life. Worsening of the chest’s appearance and the onset of symptoms are usually reported during rapid bone growth in the early teenage years. Many patients are not brought to the attention of a pediatric surgeon until the patient and the family notice such changes. The appearance of the chest can be very disturbing to young teenagers. Problems with self-esteem and body image perception are frequently reported in teenaged patients. Psychologic disturbances are not unusual in older patients.

Examples of pectus excavatum in young girls are shown in the images below.

A 10-year-old girl with severe pectus excavatum. I A 10-year-old girl with severe pectus excavatum. In girls, the deformity is of particular concern because of the medial displacement of the breast, resulting in significant asymmetry of the breasts and nipples (cross-eyed appearance of the nipples).
A 10-year-old girl with severe pectus excavatum. N A 10-year-old girl with severe pectus excavatum. Note the significant asymmetry of the breasts and nipples (cross-eyed appearance of the nipples).
A 12-year-old girl with severe pectus excavatum. N A 12-year-old girl with severe pectus excavatum. Note the significant asymmetry of the breasts. Preoperative photograph.
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Pathophysiology

In pectus excavatum, the growth of bone and cartilage in the anterior chest wall is abnormal, typically affecting 4-5 ribs on each side of the sternum. The appearance of the defect widely varies, from mild to very severe cases, and some patients present with significant asymmetry between the right and left sides. The exact mechanism involved in this abnormal bone and cartilage overgrowth is not known, and, to date, no known genetic defect is directly responsible for the development of pectus excavatum. Despite the lack of an identifiable genetic marker, the familial occurrence of pectus deformity is reported in 35% of cases. Moreover, the condition is associated with Marfan syndrome and Poland syndrome.

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Epidemiology

Frequency

United States

Pectus excavatum occurs in an estimated 1 in 300-400 births, with male predominance (male-to-female ratio of 3:1). Pectus excavatum comprises approximately 90% of all chest wall deformities.

International

Although limited data are available, international frequency is probably the same as that reported in the United States. However, in certain countries (eg, Argentina), pectus carinatum is more common than pectus excavatum.

Mortality/Morbidity

Many patients with pectus excavatum are asymptomatic from a functional standpoint. The degree of cardiopulmonary impairment caused by lung compression and the level of cardiac displacement that results from the caved-in chest are subjects of controversy. Exercise tolerance is frequently reported as abnormal, and a restrictive pattern in pulmonary function test can be identified in severe cases. Cardiac function is usually normal, but mitral valve prolapse has been reported in 20-60% of cases. Echocardiography typically reveals some degree of atrial compression and cardiac displacement. Rarely, it may reveal mitral or tricuspid regurgitation. Echocardiographic analysis has demonstrated improved cardiac index upon exertion after operative repair of the deformity. The long-term health risks of patients who are managed without surgery are not known.

Race

Pectus excavatum appears to be most prevalent in whites. Unfortunately, no specific data are available regarding racial distribution; however, clinical observation indicates that treating pectus excavatum in African Americans is unusual.

Sex

The male-to-female ratio is 3:1. Despite such observation, no known genetic factor linked to the X or Y chromosome has been reported.

Age

Most cases of severe pectus excavatum are noticed at birth, with progressive worsening of the child's growth and development. More than 80% of all cases are identified within the first 1-2 years of life. The condition typically becomes much more pronounced at puberty, during the time of rapid bone and cartilage growth. Most patients are brought to medical attention during their teenage years because of the significant change in the appearance of their chest.

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