Ebstein anomaly and Down syndrome
Clinical case
DOI:
https://doi.org/10.61651/rped.2024v76n1p1c1-1c6Keywords:
Sindrome de Down, Anomalía de EbsteinAbstract
Ebstein anomaly is a rare congenital heart disease, and its occurrence in association with Down syndrome is even rarer.
Objective: Report a case of Ebstein anomaly in a patient with Down phenotype.
Clinical Case: Newborn patient born hypotonic and generalized cyanosis, which persists despite tactile stimulation for which he receives oxygenatory support through the cephalic halo, presenting intermittently episodes of desaturation. On physical examination there was generalized hypotonia and cyanosis, down fascies, rhythmic heart sounds, and a V/VI murmur was heard. Chest xray showed marked cardiomegaly. The echocardiogram showed apical displacement of the triscupid septal leaflet of 9.3 mm, confirming the diagnosis of Ebstein anomaly.
Discussion: Ebstein anomaly is a serious and infrequent pathology. Cardiac anomalies are common in patients with Down syndrome.
Conclusion: The association between both conditions is exceptionally rare. The importance of a complete cardiological evaluation and multidisciplinary followup of these cases is highlighted due to the serious complications and the possible need for surgical intervention.
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Copyright (c) 2024 Carmen Alegría Bernal, Interna de Medicina
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