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Pectus excavatum (PE) has significant genetic links, with mutations found in connective tissue and signaling genes. Early-onset PE shows a high rate of pathogenic genetic findings, indicating a strong hereditary component.

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Area of Science:

  • Medical Genetics
  • Developmental Biology
  • Congenital Disorders

Background:

  • Pectus excavatum (PE) is the most common congenital chest wall deformity.
  • While often viewed as structural, genetic factors are increasingly implicated in PE etiology.
  • Understanding genetic contributions is crucial for diagnosis and treatment.

Purpose of the Study:

  • To systematically review genetic mutations, SNPs, and structural variants associated with pectus excavatum.
  • To assess the current knowledge on genetic heterogeneity in PE.
  • To identify gaps in genetic research for PE.

Main Methods:

  • Comprehensive literature search across PubMed, Google Scholar, and SciSpace.
  • Systematic review and synthesis of 14 relevant studies on PE genetics.
  • Analysis of identified genetic variants and their associated genes.

Main Results:

  • Substantial genetic heterogeneity in PE identified, affecting connective tissue genes (collagens, ACAN, COMP) and signaling pathways (SMAD4, REST).
  • Copy number variants, like the 3q29 deletion syndrome, are linked to increased PE prevalence.
  • Early-onset PE shows a 44% pathogenic genetic finding rate, suggesting a stronger genetic basis in childhood cases.

Conclusions:

  • Genetic factors play a significant role in the etiology of pectus excavatum.
  • Further large-scale, multi-center genetic studies are needed to establish genotype-phenotype correlations and develop clinical tools.
  • Current research lacks quantitative effect sizes, highlighting the need for more robust epidemiological studies.