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2012-08-08-18 Situs inversus, ventricular septal defects  ©Jayprakash Shah www.TheFetus.net 



Situs inversus, ventricular septal defect
Jayprakash Shah, MD; FICOG1; Parth Shah MD.,D.G.O.; FIGE 2; Meeta Patel  MBBS; D.G.O.2
1 Rajni Fetal Medicine center, Ahmedabad, India
2 Rajni Hospital for Women, Ahmedabad, India

Case report:

 A 25-year-old patient, G3P2A0, having a healthy boy and a healthy girl, non consanguineous marriage.  No family or personal history of chronic heart disease or any other specific fetal malformation. Mother was not diabetic. 
Following abnormal findings were observed at 22 weeks by LMP & on biometry:

Figure 1, 2:  Biometry of normal growth 



Figure 3: 2-vessel cord which was also confirmed on bladder view 


 
Figure 4:  Fetus had cephalic presentation with stomach on right & portal vein turning to left. At 4-chamber view, heart tilted to the right – suggestive of situs inversus. 



Figure 5: Cardiac chamber size disproportion with 2 vessels between  spine & base of heart – Isomerism suspected



Figure 6: Large inlet ventricular septal defect


Video: Large inlet atria
ventricular septal defect  with atrioventricular valves at same level – Seagull sign with grayscale and power Doppler

 

Diagnosis of Incomplete atrioventricular septal defect  with situs inversus & isomerism associated with 2-vessel cord was confirmed.
Karyotype was 46 XY ( atrio- ventricular septal defect  & Isomerism is least likely to have abnormal chromosome)
Autopsy photographs showed following findings:

Figure 7, 8: Left sided liver with heart tilted to the right. Note the thymus also 


 
Figure 9, 10: Heart deviated to right with main pulmonary artery enlarged & small aorta




Figure 11: Liver resection showed right-sided stomach confirming situs inversus.
 

 
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