Genetic Role in Recurrence of Idiopathic CTEV: A Systematic Review

Hilmi Muhammad, Sofia Mubarika Haryana, Rahadyan Magetsari, Aryadi Kurniawan, Bima Baikuni, Paramita Ayu Saraswati

Research output: Contribution to journalReview articlepeer-review

1 Citation (Scopus)


Background: Congenital Talipes Equinovarus (CTEV) is a multitude of deformities involving equinus, varus, adductus, and cavus deformities. Clubfoot affects 1 in every 1000 infants born worldwide, with various incidences according to geographical areas. It has been previously hypothesized that the possible genetic role in Idiopathic CTEV (ICTEV) might have a treatment-resistant phenotype. However, the genetic involvement in recurrent ICTEV cases is yet to be determined. Aim: To systematically review existing literature regarding the discovery of genetic involvement in recurrent ICTEV to date to further understand the etiology of relapse. Methods: A comprehensive search was performed on medical databases, and the review was conducted according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) 2020 guidelines. A comprehensive search was performed on several medical databases: PubMed (MEDLINE), Scopus, the Cochrane Library, and European PMC on May 10, 2022. We included studies reporting patients with recurring idiopathic CTEV or CTEV of unknown cause after treatment, reporting whole-genetic sequencing, whole-exome sequencing, Polymerase Chain Reaction, or Western blot analysis as methods of genetic analysis (intervention) and providing results of idiopathic CTEV genetic involvement. Non-English studies, literature reviews, and irrelevant articles were excluded. Quality and risk of bias assessments were performed using Newcastle-Ottawa Quality Assessment Scale for nonrandomized studies where appropriate. The authors discussed data extracted with the primary outcome of gene(s) frequency being reported of their involvement in recurrent ICTEV cases. Results: Three pieces of literature were included in this review. Two studies analyzed the genetic involvement in CTEV occurrence, while one analyzed the protein types found. Discussion: With included studies of less than five, we could not perform other forms of analysis apart from qualitatively. Conclusion: The rarity of literature exploring the genetic etiology of recurrent ICTEV cases has been reflected in this systematic review, giving opportunities for future research.

Original languageEnglish
Pages (from-to)19-25
Number of pages7
JournalOrthopedic Research and Reviews
Publication statusPublished - 2023


  • clubfoot
  • genetics
  • idiopathic clubfoot
  • idiopathic CTEV
  • recurrent


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