Abstract

DE RUBENS-FIGUEROA, Jesús  and  MARINO, Bruno. Patient with Ebstein anomaly and Down syndrome: Strange combination. Acta pediatr. Méx [online]. 2014, vol.35, n.3, pp.218-221. ISSN 2395-8235.

The most common congenital heart diseases in children with Down syndrome are atrial or ventricular septal defects, patent ductus arteriosus or endocardial cushion defects. We describe the unusual association of Down syndrome and Ebstein anomaly in a 14 years old boy. A heart murmur was diagnosed; the patient complained precordial pain. With the clinic characteristics, we diagnosed atrial septal defect. The transthoracic echocardiogram showed Ebstein anomaly with atrial septal defect. We decided medical treatment because the tricuspid valve damage isn't important. During follow-up the patient was asymptomatic. Conclusions: The association of Down syndrome and Ebstein's anomaly is very rare. Previous cases in the literature were reviewed.

Keywords : Down's syndrome; genetic syndromes with heart defect; Ebstein's anomaly.

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