Ivemark syndrome
MIM.208530
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
- 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)
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