title: [Ebstein's disease associated with Fallot's tetralogy. Apropos of a familial case, review of the literature, embryologic and genetic implications].
abstract: Ebstein anomaly is a rare congenital cardiac malformation, representing 0.3 p. 100 of all congenital heart disease. The authors report a case of a child with Ebstein anomaly associated with tetralogy of Fallot, whose father had an apparently simple Ebstein anomaly. The association of Ebstein-Fallot is extremely rare with only 5 previously reported cases in the literature. The association Ebstein-VSD-pulmonary stenosis is more frequent (13 cases), whilst the association Ebstein-isolated VSD (33 cases) and Ebstein-pulmonary stenosis/atresia (38 cases) are relatively common. Other very varied associations have also been described. Atrial septal defect is practically an integral part of Ebstein anomaly with an ostium secundum or patent foramen ovale in 51 to 80 p. 100 of cases. The possibility of 2 subjects in the same family with Ebstein anomaly is far from negligible. A review of the literature revealed 7 other reported "pairs". A certain number of other cases also demonstrate the association of Ebstein anomaly with another congenital cardiac malformation in the same family, usually a VSD or tetralogy of Fallot. Our familial case raises the question of a possible embryological link between Ebstein anomaly and tetralogy of Fallot. Our experimental embryological studies also suggest the presence of a common denominator between these two conditions.
mesh_terms: D000328:Adult; D002675:Child, Preschool; D004437:Ebstein Anomaly / Q000150:complications* / Q000196:embryology / Q000235:genetics; D006801:Humans; D008297:Male; D013771:Tetralogy of Fallot / Q000150:complications* / Q000196:embryology / Q000235:genetics
vernacular_title: Maladie d'Ebstein associée à une tétralogie de Fallot. A propos d'une observation familiale, revue de la littérature, implication embryologique et génétique.