GENETIC SYNDROMES IN PECTUS EXCAVATUM AND PECTUS CARINATUM: IMPLICATIONS FOR DIAGNOSIS AND SURGICAL STRATEGY

Abstract

Pectus excavatum and pectus carinatum may occur as isolated deformities or as manifestations of inherited syndromes that increase treatment risks. Consequently, clinical decisions require assessment of sternal anatomy, cardiovascular disease, and connective tissue abnormalities. This review aimed to summarize clinical genetic features of syndromic deformities and their implications for diagnosis and correction. Russian and international publications from 2021 to 2026 were analyzed, including clinical guidelines, genetic studies, surgical series, and systematic reviews. The findings indicate that Marfan and Loeys Dietz syndromes require attention to aortic and other vascular disease, whereas vascular Ehlers–Danlos syndrome raises concerns about tissue fragility and bleeding. In Noonan syndrome, cardiac abnormalities and hemostatic disorders are especially relevant. Together, these differences support a staged examination considering family history, systemic signs, functional findings, and targeted genetic testing when indicated. The choice between surgical and conservative treatment should reflect deformity morphology, age, symptoms, and coexisting conditions. Although genetic diagnosis may change operative timing and safety measures, it does not determine a preferred repair technique. Evidence for syndrome-specific surgical benefits remains limited by heterogeneous samples, incomplete molecular confirmation, and insufficient long-term follow-up. Therefore, the proposed diagnostic pathway requires further prospective validation.