Cardiopulmonary Manifestations of Pectus Excavatum

Michael K. Cheezum, MD; Christopher J. Lettieri, MD

Disclosures

April 10, 2008

In This Article

Introduction

Disclaimer: The views expressed are those of the authors and should not be construed to represent the positions of Walter Reed Army Medical Center, the Department of the Army, or the Department of Defense.

Pectus excavatum, or "funnel chest," is characterized by an inward concavity of the sternum and anterior chest wall of varying severity. It is associated with numerous adverse manifestations ranging from minor cosmetic defects to clinically significant cardiopulmonary sequelae.

Pectus excavatum is a common condition and accounts for 90% of congenital chest wall deformities.[1] It is 4-6 times more prevalent among men.[1,2,3] Although no specific racial distribution has been established, pectus excavatum appears to be more prevalent in the white population. A family history of pectus excavatum or other chest wall deformities is seen in at least one third of patients.[1] It occurs in 1 of every 300-400 births and is clinically evident between 0.1% and 0.3% of the population.[2,3,4] In a large autopsy series, pectus excavatum was identified in 0.1% of individuals .[2] Although the long-term effect on survival has not been reliably established, in this series, patients with pectus excavatum tended to die earlier than those without this deformity. The mean age at the time of death among those with pectus excavatum was 33 years compared with 44 years among controls ( P = .0001).[2]

Although typically considered an isolated defect, pectus malformations are more prevalent in patients with other musculoskeletal or developmental abnormalities. They are also significantly more common in patients with concomitant connective tissue disorders, particularly Ehlers-Danlos syndrome, Marfan syndrome, osteogenesis imperfect, and homocystinuria.[5] Pectus malformations are also seen with greater frequency among children with Down syndrome, congenital heart disease, and congenital diaphragmatic hernias. Other thoracic malformations may coexist. Most commonly, scoliosis or kyphoscoliosis is seen in 5% to 26% of individuals with pectus excavatum.[6,7]

Pectus deformities present in the first year of life in the majority (85%) of cases. Subtle deformities are often present at birth but may be overlooked. However, with skeletal and cartilaginous growth, deformities become more prominent during adolescence.

The pathogenesis of pectus excavatum is unclear but likely results from an unbalanced, dysmorphic overgrowth of the costal cartilage resulting in a concave, inwardly displaced sternum. The lower third of the sternum is usually most affected. The abnormal growth of bone and cartilage typically affects the fourth and fifth ribs adjacent to the sternum. However, the appearance of the defect may vary and some may be asymmetric. Other mechanisms as causative factors for the development of pectus deformities have been proposed, including intrauterine pressure on the chest wall during fetal development; an overproduction of connective tissue surrounding the sternum; and abnormal diaphragmatic position or function producing a posterior retraction of the chest wall.

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