Jacobsen syndrome (JS) is a rare chromosomal anomaly caused by deletions in the distal long arm of chromosome 11. Features of the syndrome include growth and developmental delays, a distinctive facial appearance, and a variety of physical problems including heart defects and
bleeding disorders.
Congenital heart defects occur in approximately 50% of children with JS.
Hypoplastic left heart syndrome (HLHS) has been occasionally reported in association with JS. In such cases, the hematological abnormalities may influence the outcome from single-ventricle palliation through staged surgical reconstruction. Thrombotic obstruction or occlusion of the modified Blalock-Taussig (BT) shunt is a well-documented cause of interstage mortality following the
Norwood operation. Although there is no consensus regarding the therapeutic value of antiplatelet
therapy during the interstage period following the first stage of palliation, maintenance of shunt patency is critically important. For patients with JS undergoing single-ventricle palliation, decisions regarding antiplatelet
therapy during the interstage period may be further complicated by the presence of
thrombocytopenia and platelet dysfunction related to JS. We report the case of a patient with HLHS, JS, and
thrombocytopenia who underwent the
Norwood procedure, and we describe our strategy for prophylaxis against
thrombosis of the BT shunt.