Atrioventricular septal defect with coexisting tricuspid atresia.
We describe two infants having an atrioventricular septal defect in the setting of a double inlet atrioventricular connection, but with patency of the left-sided valvar orifice and an imperforate right-sided valvar component, and a further case with atrioventricular septal defect and an imperforate Ebstein's malformation, all producing the haemodynamic effect of tricuspid atresia. We make comparisons with the arrangement in trisomy 16 mice, in whom deficient atrioventricular septation is seen at times with the common atrioventricular junction exclusively connected to the left ventricle, a situation similar to that seen in two of our infants. We also review previous reports emphasising the important theoretical implication of the findings despite their rarity.
Heart Institute, University of São Paulo Medical School, São Paulo, Brazil. vera.aiello@incor.usp.br
Vera Demarchi
VD
Aiello
Jorge Yussef
JY
Afiune
Samuel
S
Menahem
Robert H
RH
Anderson
D000818:Animals; D001344:Autopsy; D058366:Blalock-Taussig Procedure; D002675:Child, Preschool; D004437:Ebstein Anomaly / Q000175:diagnosis; D017809:Fatal Outcome; D005260:Female; D006344:Heart Septal Defects, Atrial / Q000150:complications / Q000175:diagnosis*; D006345:Heart Septal Defects, Ventricular / Q000150:complications / Q000473:pathology* / Q000601:surgery; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D051379:Mice; D011296:Prenatal Diagnosis; D016896:Treatment Outcome; D018785:Tricuspid Atresia / Q000150:complications / Q000175:diagnosis