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

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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.

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Most cited references 144

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The 2017 international classification of the Ehlers-Danlos syndromes.

Fransiska Malfait, Clair A. Francomano, Peter K. Byers … (2017)

The Ehlers-Danlos syndromes (EDS) are a clinically and genetically heterogeneous group of heritable connective tissue disorders (HCTDs) characterized by joint hypermobility, skin hyperextensibility, and tissue fragility. Over the past two decades, the Villefranche Nosology, which delineated six subtypes, has been widely used as the standard for clinical diagnosis of EDS. For most of these subtypes, mutations had been identified in collagen-encoding genes, or in genes encoding collagen-modifying enzymes. Since its publication in 1998, a whole spectrum of novel EDS subtypes has been described, and mutations have been identified in an array of novel genes. The International EDS Consortium proposes a revised EDS classification, which recognizes 13 subtypes. For each of the subtypes, we propose a set of clinical criteria that are suggestive for the diagnosis. However, in view of the vast genetic heterogeneity and phenotypic variability of the EDS subtypes, and the clinical overlap between EDS subtypes, but also with other HCTDs, the definite diagnosis of all EDS subtypes, except for the hypermobile type, relies on molecular confirmation with identification of (a) causative genetic variant(s). We also revised the clinical criteria for hypermobile EDS in order to allow for a better distinction from other joint hypermobility disorders. To satisfy research needs, we also propose a pathogenetic scheme, that regroups EDS subtypes for which the causative proteins function within the same pathway. We hope that the revised International EDS Classification will serve as a new standard for the diagnosis of EDS and will provide a framework for future research purposes. © 2017 Wiley Periodicals, Inc.

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The revised Ghent nosology for the Marfan syndrome.

B Loeys, H Dietz, A Braverman … (2010)

The diagnosis of Marfan syndrome (MFS) relies on defined clinical criteria (Ghent nosology), outlined by international expert opinion to facilitate accurate recognition of this genetic aneurysm syndrome and to improve patient management and counselling. These Ghent criteria, comprising a set of major and minor manifestations in different body systems, have proven to work well since with improving molecular techniques, confirmation of the diagnosis is possible in over 95% of patients. However, concerns with the current nosology are that some of the diagnostic criteria have not been sufficiently validated, are not applicable in children or necessitate expensive and specialised investigations. The recognition of variable clinical expression and the recently extended differential diagnosis further confound accurate diagnostic decision making. Moreover, the diagnosis of MFS--whether or not established correctly--can be stigmatising, hamper career aspirations, restrict life insurance opportunities, and cause psychosocial burden. An international expert panel has established a revised Ghent nosology, which puts more weight on the cardiovascular manifestations and in which aortic root aneurysm and ectopia lentis are the cardinal clinical features. In the absence of any family history, the presence of these two manifestations is sufficient for the unequivocal diagnosis of MFS. In absence of either of these two, the presence of a bonafide FBN1 mutation or a combination of systemic manifestations is required. For the latter a new scoring system has been designed. In this revised nosology, FBN1 testing, although not mandatory, has greater weight in the diagnostic assessment. Special considerations are given to the diagnosis of MFS in children and alternative diagnoses in adults. We anticipate that these new guidelines may delay a definitive diagnosis of MFS but will decrease the risk of premature or misdiagnosis and facilitate worldwide discussion of risk and follow-up/management guidelines.

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Aneurysm syndromes caused by mutations in the TGF-beta receptor.

Frederick Oswald, C. Dietz, H Byers … (2006)

The Loeys-Dietz syndrome is a recently described autosomal dominant aortic-aneurysm syndrome with widespread systemic involvement. The disease is characterized by the triad of arterial tortuosity and aneurysms, hypertelorism, and bifid uvula or cleft palate and is caused by heterozygous mutations in the genes encoding transforming growth factor beta receptors 1 and 2 (TGFBR1 and TGFBR2, respectively). We undertook the clinical and molecular characterization of 52 affected families. Forty probands presented with typical manifestations of the Loeys-Dietz syndrome. In view of the phenotypic overlap between this syndrome and vascular Ehlers-Danlos syndrome, we screened an additional cohort of 40 patients who had vascular Ehlers-Danlos syndrome without the characteristic type III collagen abnormalities or the craniofacial features of the Loeys-Dietz syndrome. We found a mutation in TGFBR1 or TGFBR2 in all probands with typical Loeys-Dietz syndrome (type I) and in 12 probands presenting with vascular Ehlers-Danlos syndrome (Loeys-Dietz syndrome type II). The natural history of both types was characterized by aggressive arterial aneurysms (mean age at death, 26.0 years) and a high incidence of pregnancy-related complications (in 6 of 12 women). Patients with Loeys-Dietz syndrome type I, as compared with those with type II, underwent cardiovascular surgery earlier (mean age, 16.9 years vs. 26.9 years) and died earlier (22.6 years vs. 31.8 years). There were 59 vascular surgeries in the cohort, with one death during the procedure. This low rate of intraoperative mortality distinguishes the Loeys-Dietz syndrome from vascular Ehlers-Danlos syndrome. Mutations in either TGFBR1 or TGFBR2 predispose patients to aggressive and widespread vascular disease. The severity of the clinical presentation is predictive of the outcome. Genotyping of patients presenting with symptoms like those of vascular Ehlers-Danlos syndrome may be used to guide therapy, including the use and timing of prophylactic vascular surgery. Copyright 2006 Massachusetts Medical Society.

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Author and article information

Journal

Journal ID (nlm-ta): J Thorac Dis

Journal ID (iso-abbrev): J Thorac Dis

Journal ID (publisher-id): JTD

Title: Journal of Thoracic Disease

Publisher: AME Publishing Company

ISSN (Print): 2072-1439

ISSN (Electronic): 2077-6624

Publication date (Electronic): 22 January 2024

Publication date (Print): 29 February 2024

Volume: 16

Issue: 2

Pages: 1687-1701

Affiliations

[1]Division of General Thoracic Surgery, Department of Surgery, Zuyderland Medical Center, Heerlen , The Netherlands

Author notes

Contributions: (I) Conception and design: N Janssen, ER de Loos; (II) Administrative support: N Janssen; (III) Provision of study materials or patients: N Janssen, NA Coorens; (IV) Collection and assembly of data: N Janssen, NA Coorens; (V) Data analysis and interpretation: N Janssen, ER de Loos; (VI) Manuscript writing: All authors; (VII) Final approval of manuscript: All authors.

Correspondence to: Erik R. de Loos, MD, PhD. Division of General Thoracic Surgery, Department of Surgery, Zuyderland Medical Center, Henri Dunantstraat 5, 6419PC Heerlen, The Netherlands. Email: e.deloos@ 123456zuyderland.nl .

Article

Publisher ID: jtd-16-02-1687

DOI: 10.21037/jtd-23-957

PMC ID: 10944748

PubMed ID: 38505013

SO-VID: 784242c9-0617-4686-83c5-fe6a4ac1b4bb

License:

Open Access Statement: This is an Open Access article distributed in accordance with the Creative Commons Attribution-NonCommercial-NoDerivs 4.0 International License (CC BY-NC-ND 4.0), which permits the non-commercial replication and distribution of the article with the strict proviso that no changes or edits are made and the original work is properly cited (including links to both the formal publication through the relevant DOI and the license). See: https://creativecommons.org/licenses/by-nc-nd/4.0.

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

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Abstract

Background and Objective

Methods

Key Content and Findings

Conclusions

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Psychiatric Research and Clinical Practice

Most cited references 144

The 2017 international classification of the Ehlers-Danlos syndromes.

The revised Ghent nosology for the Marfan syndrome.

Aneurysm syndromes caused by mutations in the TGF-beta receptor.

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