A rare case of complex cyanotic heart disease - Ivemark Syndrome

Abstract

Congenital heart diseases are not uncommon. A variety of them still present in neonates with varied presentation. They can be cyanotic or cyanotic heart disease with either decreased or increased pulmonary blood flow. Ivemark Syndrome is a very rare congenital disorder that affects multiple organ systems of the body. It is characterized by the absence or underdevelopment of spleen, malformations of the heart and the abnormal arrangement of the internal viscera of the chest abdomen. Ivemark syndrome is classified as a heterotaxy disorder. The incidence of this syndrome is estimated to be 1 in 10000 1 in 40000. In this article we present this rare disorder in an 8 year old female child who had presented with cyanosis from three months of age but asymptomatic otherwise until 7 years of age. Her workup revealed mesocardia, normal cardiothoracic ratio, ECG findings of dextroposed heart and ECHO findings of multiple heart defects of almost a heart tube with pulmonary stenosis. USG abdomen revealed absence of spleen in the conventional site and also elsewhere. Peripheral smear showed Howell-Jolly bodies confirming asplenia. Liver was centrally placed. At 8 years of age child was found to be symptomatic with increasing cyanosis with squatting spells and underwent a palliative Kawashima procedure which is the only option available. After surgery child is doing fine.