Percutaneous Treatment of Congenital Heart Defects in the Rubinstein-Taybi Syndrome

Alejandro Ernesto Contreras, Ana Masciarelli, Analia Bontempo, Anibal Gentiletti, Alejandro Peirone

Abstract


The Rubinstein-Taybi syndrome is a genetic disorder characterized by distinctivefacial features, abnormalities in hands and feet, microcephaly and mentalretardation. Approximately 30% of subjects with this syndrome have associatedcongenital heart defects.This presentation describes two cases of patients with Rubinstein-Taybi syndromeassociated with congenital heart defects: a 25-year-old patient with juxtaductalnative aortic coarctation and an 11-month old infant with a large patent ductusarteriosus. Both patients underwent successful percutaneous intervention, withfavorable long-term outcome.

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Revista argentina de cardiología. ISSN en línea 1850-3748. Argentine journal of cardiology (English ed. Online ISSN 2314-2286) Sociedad Argentina de Cardiología. Azcuénaga 980 (C1115AAD),Ciudad Autónoma de Buenos Aires, República Argentina. Tel. (54 11) 4961-6027/8/9 Fax: 4961-6020 www.sac.org.ar revista@sac.org.ar