Ivemark syndrome

NB: Ivemark recognized the absence of L–R asymmetry as a pathological criterium and asplenia with isomerism was called Ivemark syndrome. Later asplenia/polysplenia syndrome appeared as a descriptive term. However it has been shown that isomerism of the atrial appendages is a much more constant feature than splenic anomalies. Ivemark and asplenia/polysplenia syndrome do not constitute distinct etiological entities and these terms should be avoided.

Autosomal recessive, with most cases sporadic (male preponderance).

NB: Do not confuse with the hepato-reno-pancreatic dysplasia syndrome (or Ivemark II syndrome) also decribed by Ivemark and probably cooresponding to autosomal recessive polycystic kidney disease (ARPKD) (See hepato-reno-pancreatic dysplastic syndromes).

Synopsis

 cardiac isomerisms

• right cardiac isomerism (with asplenia)
• left cardiac isomerism (with polysplenia)

 splenic anomalies

• polysplenia
• spleen hypoplasia or splenic aplasia (asplenia)
  • systemic sepsis (septicemia)

 visceral heterotaxy (situs inversus viscerum or visceral isomerism)

• medial liver
• common mesentery

 abnormal pulmonary lobation

• bilateral trilobar lung (right pulmonary isomerism)

Associations

 cardiovascular malformations

• complex cardiac malformations
• atrial septal defect
• pulmonic stenosis
• endocardial cushion defect
• ventricular septal defect
• atrioventricular canal

 Heinz bodies and Howell-Jolly bodies in the peripheral blood
 corpus callosum agenesis
 caudal deficiency

See also

 heterotaxy (situs anomalies, laterality disorders)

• situs ambiguus
• situs inversus totalis

References

 Peeters H, Devriendt K. Human laterality disorders. Eur J Med Genet. 2006 Sep-Oct;49(5):349-62. Epub 2006 Jan 3. PMID: 16461029