Increased incidence of mitral valve prolapse in children with pectus chest wall deformity

Karabulut, Muhammed

doi:10.1111/ped.15582

Cited by 5 publications

(1 citation statement)

References 26 publications

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“…This is likely due to diastolic filling issues, secondary to mechanical compression of the right ventricle by the thoracic depression [ 15 ]. The incidence of mitral valve prolapse is significantly increased in patients with PE, though the mechanism is not fully understood [ 16 ]. The Haller Index (HI) is the widely recognized standard with which the severity of PE is graded.…”

Section: Introductionmentioning

confidence: 99%

The Association of a Single Nucleotide Variant in COL5A1 to Early Onset Keratoconus and Pectus Excavatum—Convergence of Extracellular Matrix Pathologies

Bryant,

Moore,

Sathyamoorthy

2024

Medicina

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Keratoconus is a bilateral ocular condition characterized by irregularities and the thinning of the cornea. Decreased central corneal thickness is a hallmark of the condition, and numerous genes have played a role in altering corneal thickness and the subsequent development of keratoconus. Variants in the structural and regulatory genes of the extracellular matrix have been highly associated with keratoconus, as well as with pectus excavatum, a chest wall deformity commonly seen in connective tissue disorders. This report describes a patient with a c.1720-11T>A intronic variant in the collagen-encoding gene, COL5A1, who was diagnosed with early-onset keratoconus and demonstrated a significant pectus excavatum. This report associates a COL5A1 variant with these seemingly unrelated phenotypic associations, further advancing the literature on the topic.

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Section: Introductionmentioning

confidence: 99%

The Association of a Single Nucleotide Variant in COL5A1 to Early Onset Keratoconus and Pectus Excavatum—Convergence of Extracellular Matrix Pathologies

Bryant,

Moore,

Sathyamoorthy

2024

Medicina

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Exploring chest wall deformities in childhood and adolescence: insights from a case-control study

Kılıç,

Küçükkelepçe,

Varan

et al. 2024

BMC Pediatr

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Background Chest wall deformities, though relatively uncommon in childhood and adolescence, significantly affect aesthetic perception and can impact cardiac and respiratory function. This study aims to compare individuals with pectus deformities to a healthy control group, shedding light on the condition’s etiology and prognosis. Method Conducted as a case-control study between 2020 and 2022, the research included a case group of 71 patients with pectus excavatum or pectus carinatum who were followed up at the Pediatric Cardiology outpatient clinic. The control group consisted of 80 children without chronic diseases. Researchers retrospectively reviewed patient files, recording demographic data, echocardiography findings, and serum levels of calcium, phosphate, vitamin D, and alkaline phosphatase. Results Patients with chest wall deformities exhibited significantly lower serum levels of vitamin D, calcium, and phosphorus compared to those without deformities. Males constituted 77% of the case group, with 15.5% exhibiting abnormal echocardiogram results, with mitral valve anomalies being most prevalent. Conclusion While pectus deformities may lead to cardiac or respiratory issues, patient concerns often center around aesthetics. Unlike typical studies focused on surgical techniques and postoperative patients, our study focused on all diagnosed patients. Findings emphasize the importance of monitoring calcium, phosphorus, and vitamin D levels in pectus patients to manage surgical risks and facilitate recovery.

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Impact of pectus excavatum deformity on the cardiopulmonary function: a literature review

Khodorovskaya,

Ryzhikov,

Dolgiev

2024

Pediatr Traum Orthop Reconstr Surg

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BACKGROUND: Pectus excavatum deformity is the most common chest wall malformation. Currently, surgeons and researchers of this problem have no consensus on whether pectus excavatum is a purely aesthetic problem or whether pectus excavatum disturbs the function of the cardiopulmonary system. AIM: To analyze publications on the effect of pectus excavatum on the cardiorespiratory system and the functional features of the heart and lung after thoracoplasty in patients with pectus excavatum. MATERIALS AND METHODS: Data were searched in the scientific databases PubMed, Google Scholar, Cochrane Library, Crossref, and eLibrary without language limitation. In this article, the method of analysis and synthesis of information was used. Most of the studies included in the analysis were published in the last 20 years. RESULTS: In patients with pectus excavatum, severity of cardiorespiratory dysfunction depends on the degree of chest deformity. According to obtained data, the pulmonary function test in patients with pectus excavatum in the majority of cases revealed restrictive pattern (formed vital capacity 80% of the norm, with normal ratio of forced expiratory volume in 1 minute to forced lung capacity). In most cases, echocardiography showed compression of the right heart chambers. Comparative analysis of the pre- and postoperative study of cardiorespiratory system in most cases indicated improvement and adaptation of the cardiopulmonary system to stress after surgical intervention. CONCLUSIONS: Funnel chest is an aesthetic problem wherein a severe degree of deformity leads to impaired respiratory mechanics and dysfunction of the cardiovascular system. Surgical restoration of the volume of the retrosternal space allows improvement of the functional capabilities of the heart and lungs.

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Increased incidence of mitral valve prolapse in children with pectus chest wall deformity

Cited by 5 publications

References 26 publications

The Association of a Single Nucleotide Variant in COL5A1 to Early Onset Keratoconus and Pectus Excavatum—Convergence of Extracellular Matrix Pathologies

The Association of a Single Nucleotide Variant in COL5A1 to Early Onset Keratoconus and Pectus Excavatum—Convergence of Extracellular Matrix Pathologies

Exploring chest wall deformities in childhood and adolescence: insights from a case-control study

Impact of pectus excavatum deformity on the cardiopulmonary function: a literature review

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