Rare Extracardiac Anomalies Presented with Right Heterotaxy Syndrome in a Newborn Baby: A Case Report

Abstract

BACKGROUND Heterotaxy is a syndrome of abnormal arrangement of the internal thoracic-abdominal structures across the left-right axis of the body. It is a primary disorder with 2 main settings - bilateral left sidedness (polysplenia syndrome) or right sidedness (asplenia syndrome) - although some overlapping or uncertainties may occur. Patients with right heterotaxy typically present with asplenia, complex heart disease, and other thoracoabdominal organ situs abnormalities. CASE REPORT We present a unique case of congenital asplenia syndrome with complex heart disease, annular pancreas, and other extra-heterotaxic anomalies (e.g., musculoskeletal) in the form of a radius aplasia and partial syndactyly of the thumb and index finger of the left hand. These associated anomalies have not been reported before. CONCLUSIONS This case shows the need for paying increased attention to the implications of other extracardiac anomalies that can be associated with heterotaxy syndrome.

Figure 1.

Radiograph of left upper limb shows the complete radial aplasia with persistent flexion of the wrist.

Figure 2.

Abdomen radiography shows dilated stomach bubble.

Figure 3.

Abdominal ultrasound shows non-visualized spleen.

Figure 4.

Standard spleen and liver scan using 99mTc-Sulfur-colloid demonstrated the normal anatomical location of the liver and non-visualized spleen.

Figure 5.

Parasternal view shows single common atrium, single AV valve, and single ventricle.

Figure 6.

Short axis view shows aorta is parallel to pulmonary artery (d-TGA).