A case of right sided cardiosplenic heterotaxy syndrome

M B K C Dayasiri,C T Perera,W Bandara,O J C Ranasinghe

doi:10.4038/sljch.v45i1.8086

Abstract

Heterotaxy is said to exist when the internal thoracoabdominal organs demonstrate abnormal arrangement across the left-right axis of the body. It is categorized into asplenia and polysplenia syndrome variants. Asplenia syndrome is characterized by complex congenital heart defects, asplenia and abdominal heterotaxy. Evidence with regard to the incidence of isomerism is sparse. However, recent studies show that it is commoner in Asians compared to Western populations. Most cases of right isomerism are recognized in early infancy because of the presence of severe forms of complex cyanotic heart disease. Infants with right isomerism invariably have obstruction of the pulmonary outflow tract, as well as common mixing at atria and ventricles, and pulmonary atresia is present in 67% of cases. Here we report an unusual and relatively late presentation of an infant with right sided cardiosplenic heterotaxy syndrome associated with severe cyanotic congenital heart disease.

Highlights

Heterotaxy is said to exist when the internal thoracoabdominal organs demonstrate abnormal arrangement across the left-right axis of the body[1]
Infants with right isomerism invariably have obstruction of the pulmonary outflow tract, as well as common mixing at atria and ventricles, and pulmonary atresia is present in 67% of cases[3]
Prolonged functional survival is very uncommon in this variant, with death usually caused by congestive heart failure or severe infection[4]

Summary

Introduction

Heterotaxy is said to exist when the internal thoracoabdominal organs demonstrate abnormal arrangement across the left-right axis of the body[1]. It is categorized into asplenia and polysplenia syndrome variants[1]. Most cases of right isomerism are recognized in early infancy because of the presence of severe forms of complex cyanotic heart disease[1]. We report an unusual and relatively late presentation of an infant with right sided cardiosplenic heterotaxy syndrome associated with severe cyanotic congenital heart disease. Venous blood gas showed severe metabolic acidosis. She was given ventilation breaths with volume resuscitation and later transferred to the paediatric intensive care unit for ventilator care. Roentgenogram showed liver in the left hypochondrium with coiling of bowel loops in the right hypochondrium (Figure 1)

Case report

Findings

Discussion