CASES OF THE WEEK - “Heterotaxy syndrome with partial sinus inversus  abdominalis” by Dr Hossameldin Maged, Consultant Paediatrics, NMC Royal Hospital Sharjah

Heterotaxy syndrome with partial sinus inversus abdominalis

Full term ( gestational age 39 weeks) female baby was born by normal vaginal delivery Sunday 21 June 2020 at 11 pm- mother from Jordan 23 years old primigravida without any past history of medical illness.

Apgar score was 5 at 1st minute- 9 at 5th minute- baby was fine after delivery and shifted to nursery baby care unit and received feeding well then suddenly cyanosis of the face noticed after 8 hours after delivery by pediatric RMO and then endotracheal intubation and ambu bagging started and baby shifted to NICU.

Blood gases showed severe hypoxemia and chest x-ray showed abnormal cardiac shape (egg on side appearance) giving high possibility of congenital cyanotic heart disease (transposition of great arteries)- O2 sat% of the baby was 50 % then baby was put on Nasal CPAP and saturation wasn't increasing so we started prostaglandins IV then baby saturation reached 92% in lower limbs and 86% in upper limbs.

X ray of the abdomen showed abnormal opposite position of the liver and stomach.

Differential diagnosis was put as a case of congenital cyanotic heart disease - then we contacted AL JALILA hospital for referral of the baby to their tertiary neonatal cardiac unit for arrangement of cardiac operation and further management .

Echocardiography was done showed a case of rare complex congenital cyanotic heart disease (TGA- pulmonary atresia- ASD- Dilated right atrium -single ventricle- Common A-V canal) which needs urgent cardiac operation).

Here we report a very rare interesting syndrome (Heterotaxy syndrome with partial situs inversus abdominalis ).

Common manifestations of this syndrome - the abdominal organs like stomach , liver and intestine m will be in abnormal different positions and multiple congenital heart defects.

Heterotaxy syndrome caused by mutations in many different genes- it can be presented with either right or left isomerism.

Management of babies with this syndrome require tertiary neonatal cardiac centre and highly qualified surgical team for neonatal cardiac operations.