Case Report Holt-Oram Syndrome Associated with the Double Outlet Right Ventricle and Severe Pulmonary Stenosis: Case Report

Holt-Oraın syndrome is an autosomal dominant disorder, manifesting skeletal malforınation in the upper extreınities, congenital heart defects and cardiac dysrhytmias. A 15-month-old ınale was admitted to pediatric clinic with cyanotic spells. On physical examination, there was radial aplasia of the right arın and aplasia of the right thumb, hypoplasia of the left thumb with hypoplastic thenar eminences. Echocardiography revealed double outlet right ventricle with pulmonary stenosis. Altough multiple forrus of congenital heart diseases and skeletal malformations associated with the HaltOram syndrome have been documented, double outlet right ventricle is rare. Therefore, this case is presented and discussed. Key words