Asplenia syndrome, also known as right isomerism or Ivemark syndrome, is a type of heterotaxy syndrome.
There is an increased male predilection. Asplenia syndrome is usually diagnosed in neonates .
In contrast to polysplenia syndrome, most patients die before 1-year-old because of severe/complex congenital heart disease. Most patients are immunocompromised due to absent spleen.
Howell-Jolly and Heinz bodies are seen on H&E blood smear .
Main characteristic radiographic features include:
- absence of spleen
- bilateral eparterial bronchi
- bilateral trilobed lungs
- bilateral right atria
- transverse liver
- severe/complex congenital heart disease (50%), especially cyanotic congenital cardiac anomalies
- total anomalous pulmonary venous return (almost 100%)
- endocardial cushion defect (85%)
- transposition of the great arteries (72%)
- single ventricle (51%)
- double outlet right ventricle (DORV)
- gallbladder agenesis
- intestinal malrotation (up to 100% in small series)
- imperforate anus
- horseshoe kidney
- fused / horseshoe adrenal gland or absent left adrenal gland
- bicornuate uterus
- bilobed urinary bladder
- duplication of the superior vena cava
- absent coronary sinus
- juxtaposition of the IVC in front (usually) of the abdominal aorta (piggyback configuration)
- polysplenia syndrome
- heterotaxy syndrome
- asplenia: not to confused with asplenia syndrome