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Correlated heart/limb anomalies in Mendelian syndromes provide evidence for a cardiomelic developmental field

G N Wilson1

  • 1Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas 75235-9063, USA. Wilson@utsw.swmed.edu

American Journal of Medical Genetics
|April 17, 1998
PubMed

Insights

Coordinated heart and limb development is supported by analyzing Mendelian disorders. Limb defects frequently accompany cardiac anomalies, suggesting a shared developmental field.

Area of Science:

  • Developmental Biology
  • Human Genetics
  • Teratology

Background:

  • Coordinated development of the heart and limbs is observed in various human syndromes.
  • Mendelian disorders affecting limbs or heart often involve both structures.

Purpose of the Study:

  • To investigate the coordinated development of heart and limb structures.
  • To analyze the relationship between limb malformations and cardiac anomalies in Mendelian disorders.

Main Methods:

  • Review of human abortus, chromosomal, and teratogenic syndromes.
  • Analysis of Mendelian disorders affecting limbs, heart, or both.
  • Examination of positional correlations between heart and limb anomalies.

Main Results:

  • Limb malformations (duplications, deficiencies, hypoplasias, dysplasias) are frequently associated with cardiac anomalies.
  • Specific cardiac anomalies like ventricular septal defect (VSD) and atrial septal defect (ASD) often co-occur with limb defects.
  • Positional correlations suggest a cardiomelic developmental field influencing anterior, posterior, and lateral anomalies.

Conclusions:

  • Evidence supports a cardiomelic developmental field, linking genetic heterogeneity to molecular cascades.
  • A dorsal-ventral limb-heart gradient, influenced by neural crest, is proposed with distal limb segments at its dorsal extreme.
  • Key molecular families (brachyury, sonic hedgehog, BMP, RAR, TGF-β) are implicated in this developmental field.

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