Clinical analysis of families with heart, midline, and laterality defects

Susan H. Morelli*, Luciana Young, Barbara Reid, Herbert Ruttenberg, Michael J. Bamshad

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

38 Scopus citations


Disturbances of the normal asymmetric placement of organs, such as polysplenia or situs inversus, have been defined traditionally as laterality defects. However, there is compelling evidence from vertebrate models and human birth defects to hypothesize that defects of the midline, isolated congenital heart defects, and laterality defects are etiologically related. We present the clinical characteristics of three families that exhibit a variety of midline defects and isolated heart defects in addition to laterality defects. These observations suggest that the phenotypic consequences of mutations causing laterality defects include defects of the midline as well as isolated heart defects. To further explore the relationship between midline, heart, and laterality defects, it is imperative that detailed phenotyping of individuals and families with laterality defects be done and a classification system created to facilitate identification of genes causing human laterality disorders.

Original languageEnglish (US)
Pages (from-to)388-392
Number of pages5
JournalAmerican Journal of Medical Genetics
Issue number4
StatePublished - Jul 15 2001
Externally publishedYes


  • Asplenia
  • Heterotaxy
  • Left-right asymmetry
  • Mendelian inheritance
  • Neural tube defect
  • Polysplenia

ASJC Scopus subject areas

  • Genetics(clinical)


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