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The association of split hand foot malformation (SHFM) and congenital heart defects

Alison M Elliott1, Jane A Evans

  • 1Department of Biochemistry and Medical Genetics, University of Manitoba, Winnipeg, Manitoba, Canada. aelliott@hsc.mb.ca

Birth Defects Research. Part A, Clinical and Molecular Teratology
|April 3, 2008
PubMed

Insights

Split hand foot malformation (SHFM) is linked to congenital heart defects (CHDs), particularly in SHFM1 and SHFM5 subtypes. Further research into common genetic mechanisms, like DLX homeobox genes, is warranted for these SHFM forms.

Area of Science:

  • Genetics
  • Developmental Biology
  • Clinical Medicine

Background:

  • Split hand foot malformation (SHFM) is a heterogeneous limb malformation with known genetic loci.
  • SHFM can occur independently or with other congenital anomalies, notably congenital heart defects (CHDs).

Purpose of the Study:

  • To investigate the association between SHFM subtypes and the occurrence of CHDs.
  • To explore potential shared genetic etiologies for SHFM and CHDs.

Main Methods:

  • Evaluated patients with SHFM at specific loci (SHFM1, SHFM3, SHFM4, SHFM5) and chromosome 8.
  • Conducted a literature review and database search for SHFM patients with co-occurring CHDs.
  • Classified CHDs using the revised Clark classification and analyzed phenotypic findings.

Main Results:

  • Congenital heart defects (CHDs) were observed in 10% of SHFM1 and 47% of SHFM5 patients.
  • No CHDs were reported in SHFM2, SHFM4, or chromosome 8 mapped patients.
  • Identified 42 syndromic and 15 unrecognized syndromic cases with SHFM and CHD.

Conclusions:

  • The elevated incidence of CHDs in SHFM1 and SHFM5 suggests potential common genetic pathways.
  • Members of the DLX homeobox gene family are proposed as candidate genes for SHFM1 and SHFM5.
Abstract

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