Association between pectus excavatum and congenital genetic disorders: A systematic review and practical guide for the treating physician

Billar, Ryan J; Manoubi, Wiem; Kant, Sarina G.; Wijnen, René; Demirdas, Serwet; Schnater, J. Marco

doi:10.1016/j.jpedsurg.2021.04.016

Cited by 15 publications

(14 citation statements)

References 166 publications

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“…20,21 The early recognition of these genetic variations in these eight patients has major implications regarding the comorbidity and reproductive choices, and the surgical correction of PE. 4,10,[14][15][16][17][18] Be that as it may, in daily practice clinicians often miss an underlying genetic variation in PE patients, as representative clinical signs may be subtle or not even recognized. 8,22 Not to mention that approximately 40% of patients with chest wall deformities have family members with a chest wall deformity, implying an underlying genetic component.…”

Section: Discussionmentioning

confidence: 99%

“…Additionally, we have evaluated a standardized protocol which helps identifying which patient with PE should be referred for genetic counseling. 4 Without this evaluation, identified underlying variations is in eight of the 18 participants (44%). Still, on the basis of said evaluation, four patients could be excluded from genetic counseling, as an underlying genetic variation was not suspected.…”

Section: Accepted Manuscriptmentioning

confidence: 99%

“…This protocol was created for the purpose of identifying those patients with PE who should be referred for genetic counseling (≥1 major criteria or ≥2 minor criteria). 4 Applying this protocol, we identified all eligible patients in our study population. The added clinical value of using this protocol was determined by calculating the incidence of molecular variations in…”

Section: Accepted Manuscriptmentioning

confidence: 99%

“…1,2 The possible underlying genetic mechanisms of PE are unknown. [3][4][5] A familial predisposition has been observed, and almost half of the patients have relatives with various skeletal variations. 6,7 However, a direct genetic link has not been found, and only a few pathogenic genetic variations have been identified to be associated with PE.…”

Section: Introductionmentioning

confidence: 99%

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

et al. 2023

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Background: Potential underlying genetic variations of pectus excavatum (PE) are quite rare. Only one-fifth of PE cases are identified in the first decade of life and thus of congenital origin. The objective of this study is to test if early-onset is more likely to be part of genetic variations than PE that becomes apparent during puberty or adolescence. Materials and methods: Children younger than 11 years upon who presented with PE to the outpatient clinic of the department of Pediatric Surgery at our center between 2014 and 2020 were screened by two clinical geneticists separately. Molecular analysis was performed based on the differential diagnosis. Data of all young PE patients who already had been referred for genetic counseling were analyzed retrospectively. Results: Pathogenic genetic variations were found in eight of the 18 participants (44%): three syndromic disorders (Catel-Manzke syndrome, and two Noonan syndromes), three chromosomal disorders (16p13.11 microduplication syndrome, 22q11.21 microduplication syndrome, and genetic gain at 1q44), one connective tissue disease (Loeys-Dietz syndrome), and one neuromuscular disorder (pathogenic variation in BICD2 gene). Conclusions: Early-onset PE is more likely to be part of genetic variations than PE that becomes apparent during puberty or adolescence. Referral for genetic counseling should therefore be considered.

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Section: Discussionmentioning

confidence: 99%

Section: Accepted Manuscriptmentioning

confidence: 99%

Section: Accepted Manuscriptmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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

et al. 2023

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“…A systolic ejection murmur may also be heard in patients with pectus excavatum, as a result of the close proximity of the sternum to the pulmonary artery. Patients with history or exam findings suspicious for a connective tissue disorder such as Marfan’s syndrome should also be referred for genetic counseling, as twenty unique genetic disorders have been associated with pectus excavatum ( 6 ). Cardiac anomalies have been shown to co-occur in up to 84% of patients with Marfan’s syndrome and pectus deformities ( 3 ).…”

Section: Pectus Excavatum Managementmentioning

confidence: 99%

The management of pectus excavatum in pediatric patients: a narrative review

Scalise¹,

Demehri²

2023

Transl Pediatr

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Background and Objective: Pectus excavatum is the most common congenital chest wall anomaly, the hallmark of which is the caved-in appearance of the anterior chest. A growing body of literature exists surrounding methods of surgical correction, though considerable variability in management remains. The primary objectives of this review are to outline the current practices surrounding the care of pediatric patients with pectus excavatum and present emerging trends in the field that continue to impact the care of these patients.

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