Ivemark symptom complex

The Ivemark symptom complex (synonyms: Ivemark association Ivemark syndrome II , asplenia syndrome or splenic genesis syndrome ) is a rare congenital malformation syndrome that is named after the Swedish pediatrician Björn Ivemark . It occurs with a frequency of 1 in 40,000 newborns and is characterized by the complete absence of the spleen in combination with various heart defects. This combination of malformations makes it a classic representative of what is known as heterotaxia . The life expectancy of most affected children is significantly limited.

Symptoms

The main symptom is the absence of the spleen. In various variants, however, a shift to the right or a malformation of the spleen, in which many small spleens are distributed over the abdominal cavity, belonging to the Ivemark syndrome, has also been described. Combined with this and mostly responsible for the limited life expectancy, there are various complex congenital malformations of the heart such as an atrio-ventricular septal defect , a transposition of the large arteries or a common arterial trunk . Other malformations can affect most internal organs. Positional anomalies of the gastrointestinal tract up to the situs inversus or a three-lobed left lung are preferred. There may also be other malformations.

root cause

Although the exact cause is unknown, a hereditary cause is suspected. This suggests the fact that the syndrome, in addition to sporadic cases, also occurs in various families. In addition, the Ivemark symptom complex is now understood as a manifestation of various disorders of lateralization, i.e. the side assignment of organs, so-called heterotaxies . For some of these heterotaxies, different mutations have now been found in several genes.

literature

• B. Ivemark: Implications of agenesis of the spleen on the pathogenesis of conotruncus anomalies in childhood: an analysis of the heart malformations in the splenic agenesis syndrome, with fourteen new cases . In: Acta Pediatr 1955; 44 (suppl 104): 7-110

Web links

• National Organization for Rare Diseases extract

Individual evidence

1. ↑ Leiber: The clinical syndromes. Edited by G. Adler, G. Burg, J. Kunze, D. Pongratz, A. Schinzel, J. Spranger. 8th ed. Vol. 1, p. 400. ISBN 3-541-01718-X
2. ^ ^{A b} Simpson J, Zellweger H: Familial occurrence of Ivemark syndrome with splenic hypoplasia and asplenia in sibs. In J Med Genet. 1973-10: 303-304 PMID 4774542
3. ↑ R. Nanan et al .: Congenital hyposplenism with multiple associated malformations: variant of Ivemark syndrome ; Klin Padiatr 2002; 214: 299-302 doi : 10.1055 / s-2002-33979
4. ^ Orpha-Net heterotaxia

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