Current Concepts in the Etiology and Pathogenesis of Pectus Excavatum in Humans—A Systematic Review

Abstract

Pectus excavatum (PE) is the most common deformity of the chest wall and is characterized by the posterior depression of the sternum and the lower costal cartilages. To date, the etiology of PE in humans remains enigmatic. Several etiologic hypotheses have been proposed over the past two centuries. However, most of them have been scientifically dismissed and now have only historic value. In this systematic review, we assess scientific publications of the past two centuries addressing the issue of the origin of PE in humans. We present and discuss the histologic, genetic, biomechanical, and experimental scientific achievements that contributed to the clarification of its etiology and pathogenesis. With no clear consensus over the exact mechanism, most recent studies agree that the primordial defect leading the deformation of the anterior chest wall in PE is related to the costal hyaline cartilage structure and function. Further studies on this subject must be carried out. Genetic studies seem to be the most promising way to understand the exact mechanism of PE’s origin and pathogenesis.

Early-Onset Pectus Excavatum Is More Likely to Be Part of a Genetic Variation

“…Performing an inappropriate type of analysis could result in misdiagnosis. 5,10 The rarity of underlying genetic variations is illustrated by Behr et al, who found that 5.3% of 187 PE patients in their cohort was affected by Marfan Syndrome, which proportion is relatively high but still rare. 20 In a study by Croitoru et al, likewise 5.3% of 303 PE patients was diagnosed with Marfan's Syndrome and 2% with Ehlers-Danlos Syndrome.…”

“…during this period. 5,12 Only 22% of all PE cases are identified in the first decade of life and thus of congenital origin. 13 Therefore younger PE patients are a unique patient group.…”

“…The current leading theory describes an unbalanced overgrowth of the costochondral regions. 5,11 This unbalanced overgrowth especially occurs during the growth spurt and puberty, as a result of which the PE becomes more apparent or is first noted…”

Đánh giá kết quả phẫu thuật Nuss điều trị lõm ngực bẩm sinh

“…Nguyên nhân gây lõm ngực bẩm sinh đến nay vẫn chưa được biết rõ, được xác định có yếu tố gia đình và liên quan tới một số rối loạn mô liên kết như hội chứng Marfan, hội chứng Loeys -Dietz và Ehler -Danlos hay các dị tật bẩm sinh khác như vẹo cột sống, dị tật bẩm sinh của cơ hoành [3]. Lõm ngực bẩm sinh phần lớn được phát hiện sớm ngay sau sinh (85 -90%), tiến triển nặng dần, trẻ càng lớn lõm ngực biểu hiện càng rõ, thường nặng nhất ở tuổi dậy thì và không có xu hướng tự khỏi nếu không được điều trị [1].…”

Simultaneous pectus excavatum repair using sternal plate in a patient undergoing the Bentall procedure

“…Pectus excavatum is a common thorax deformity that characterizes depression of the chest wall and sternum inward because of abnormal development of costochondral conduction (1). There is no consensus in the literature on its etiology and pathogenesis, but it is considered a costal hyaline cartilage structural defect (2,3). Typically, sternum is depressed to the vertebral column at the xiphoid process level.…”