Heterotaxy syndrome with complex congenital heart disease, f
A term newborn (born at 38+4 weeks of gestation) in his second day of life born to a 27-year female with a normal vaginal delivery was brought to our emergency department with the complaint of multiple episodes of sudden bilious vomiting following the initiation of breastfeeding along with frothing from the mouth without other complaints. The patient was thus kept nil per oral and IV fluids with the suspicion of a tracheoesophageal fistula at another center.

On arrival in emergency, he was afebrile with a heart rate of 138 beats/min, respiratory rate 56 times/min, and oxygen saturation of 96% in room air with all other vitals stable including normal passage of urine and stools. On physical examination, the child was active; however, his face was deviated to the left side with a lack of movement of forehead, cheek, and corner of mouth and had a high arch palate, which increased during crying episodes. Icterus was observed up to the trunk and upper limb, and no other gross abnormality on the head-to-toe examination was detected. A holosystolic murmur was heard on cardiovascular examination, and examinations of other systems were normal.

The boy had cried immediately after birth with an Apgar score of 8/10 and 9/10 at 1 min and 5 min, respectively, without any need of resuscitation. During the observation, facial deviation to the left side was observed for which the patient was kept for further evaluation and management in the neonatal intensive care unit (NICU). Birth weight and head circumference were normal. The child was breastfed after 1 h of life when the symptoms began.

The mother had of history of spontaneous first-trimester abortion. In the recent pregnancy, mother was in normal health during the first trimester, with no history of illicit/teratogenic drug intake, smoking, alcohol, and no fever, rashes, or any other illness in the first trimester. The rest of her pregnancy was also uneventful. All the prenatal and necessary examinations but anomaly scan were performed as per required and was reported to be normal during her ANC checkups.

Blood investigations revealed hyponatremia, hyperbilirubinemia, increased aminotransferase and leukocytosis with all other parameters within normal range.

X-ray of the chest and abdomen showed an Orogastric (OG) tube on the right side. Echocardiography was done on the first day of life (DOL) revealed a complex congenital heart disease with ventricular inversion, complete atrioventricular septal defect (unbalanced type, RV dominant), double outlet right ventricle, malposition of great arteries, mild pulmonary stenosis, and possible partial anomalous pulmonary vein connection of left-sided pulmonary veins along with a small patent ductus arteriosus. Neurosonogram was normal.

Ultrasonography of abdomen/pelvis on 4th DOL showed a midline liver with normal echogenicity, right-sided stomach with no spleen and cardiac apex on the left side, and all other organs in normal position. Further gastrograffin follow through confirmed the findings of the right-sided stomach with the left-sided ileocecal junction. All these findings were suggestive of Heterotaxy syndrome with complex congenital heart disease.

Source: https://onlinelibrary.wiley.com/doi/10.1002/ccr3.4573?af=R
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