Revista portuguesa de cardiologia : orgão oficial da Sociedade Portuguesa de Cardiologia = Portuguese journal of cardiology : an official journal of the Portuguese Society of Cardiology
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Complete situs inversus is a rare syndrome, with overall frequency estimated at 1/10,000 births, resulting from abnormal rotation of the cardiac tube during embryogenesis, of unknown mechanism. Recent studies suggest that left-right asymmetry defects are likely to be due to genetic abnormalities in the lefty, nodal, i.v., HAND, ZIC3, Shh, ACVR2B and/or Pitxz genes. In dextrocardia with situs inversus the heart is structurally normal in 90-95% of cases, in contrast to dextroversion (dextrocardia with situs solitus), which has a high incidence of structural cardiac defects. ⋯ They revealed complete situs inversus with corrected ostium secundum atrial septal defect. Finally, the anatomic, pathologic, embryologic and etiologic features of complete situs inversus and related abnormalities of the cardiac structures are presented. Special emphasis is given to genetic abnormalities, the study of which has seen great advances since the 1990s thanks to new techniques of DNA analysis.