Surgical correction of recurrent pectus excavatum of an adult patient, case report, and review of literature

Ortiz, Jorge Arturo Rojas; Abrego, Benito Vargas

doi:10.1007/s12055-019-00913-z

Cited by 3 publications

(1 citation statement)

References 15 publications

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“…Surgical correction is considered for patients with a significant deformity. Indications for surgical correction include: A Haller index of 3.25 or greater, patients experiencing exercise intolerance, shortness of breath, or chest pain, obstructive or restrictive pulmonary dysfunction, cardiac evaluation that displays murmurs, arrhythmias, mitral valve prolapse, or displacement of the heart [ 19 ].…”

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%