Heterotaxy Syndrome: A Pandora’s Box

Ashish Varma, Arjun Jaiswal, Tamana Manwani, Revat Meshram, Anjali Kher, Jayant Vagha, Sachin Damke

Abstract

Heterotaxy syndrome is characterized by misplacement of internal organs in the chest and abdominal areas. Individuals born with this syndrome exhibit dysfunctioning of multiple internal organs because of antenatal defects in the heart, lungs, liver, spleen, and intestine. As the heart’s functioning is also affected, this condition can be diagnosed in an early stage. Heterotaxy syndrome can be referred as Pandora’s box because it surprises with several complications as imaging investigations go on. To ascertain the full spectrum of organs involved, the primary beneficial investigations—2D echocardiography, ultrasonography of the abdomen and chest, X-ray of the chest, and computed tomography angiography of the chest and abdomen—must be performed. The severity of this syndrome is proportionate to the number and extent of the organs involved, which results in variability in outcomes. The treatment modalities are uniquely pertinent to each individual. These altogether pose a challenge for the treating doctors. The supportive treatment and operative options are tailored depending upon the case.