Asplenia syndrome

Asplenia syndrome, also known as right isomerism or Ivemark syndrome, is a type of heterotaxy syndrome.

Epidemiology

There is an increased male predilection. Asplenia syndrome is usually diagnosed in neonates ⁴.

Associations

• 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)
• gastrointestinal
  • gallbladder agenesis
  • intestinal malrotation (up to 100% in small series) ³
  • microgastria
  • imperforate anus
• genitourinary
  • horseshoe kidney
  • fused / horseshoe adrenal gland or absent left adrenal gland
  • bicornuate uterus
  • bilobed urinary bladder
• vascular
  • duplication of the superior vena cava
  • absent coronary sinus
  • juxtaposition of the IVC in front (usually) of the abdominal aorta (piggyback configuration)

Clinical presentation

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.

Pathology

Howell-Jolly and Heinz bodies are seen on H&E blood smear ⁶.

Radiographic features

General

Main characteristic radiographic features include:

• absence of spleen
• bilateral eparterial bronchi
• bilateral trilobed lungs
• bilateral right atria
• transverse liver

See also

• polysplenia syndrome
• heterotaxy syndrome
• isomerism
• asplenia: not to be confused with asplenia syndrome