Pectus excavatum and carinatum: a narrative review of epidemiology, etiopathogenesis, clinical features, and classification

Abstract

Background and Objective A wide variety of congenital chest wall deformities that manifest in infants, children and adolescents exists, among which are pectus excavatum and pectus carinatum. Numerous studies have been conducted over the years aiming to better understand these deformities. This report provides a brief overview of what is currently known about the epidemiology, etiopathogenesis, clinical presentation, and classification of these deformities, and highlights the gaps in knowledge. Methods A search was conducted for all the above-described domains in the PubMed and Embase databases. Key Content and Findings A total of 147 articles were included in this narrative review. Estimation of the true incidence and prevalence of pectus excavatum and carinatum is challenging due to lacking consensus on a definition of both deformities. Nowadays, several theories for the development of pectus excavatum and carinatum have been suggested which focus on intrinsic or extrinsic pathogenic factors, with the leading hypothesis focusing on overgrowth or growth disturbance of costal cartilages. Furthermore, genetic predisposition to the deformities is likely to exist. Pectus excavatum is frequently associated with cardiopulmonary symptoms, while pectus carinatum patients mostly present with cosmetic complaints. Both deformities are classified based on the shape or severity of the deformity. However, each classification system has its limitations. Conclusions Substantial progress has been made in the past few decades in understanding the development and symptomatology of pectus excavatum and carinatum. Current hypotheses on the etiology of the deformities should be confirmed by biomedical and genetic studies. For clinical purposes, the establishment of a clear definition and classification system for both deformities based on objective morphologic features is eagerly anticipated.

Spinal posture, mobility, and position sense in adolescents with chest wall deformities: a comparison of pectus excavatum, pectus carinatum and healthy peers

“…Although the deformity is usually recognized at birth, most of them become more apparent at the beginning of adolescence. Congenital heart diseases, musculoskeletal system defects, and psychological problems may be observed with PC [ 3 , 6 ].…”