Asplenia with cardiovascular anomalies

The Ivemark symptom complex (synonyms: Ivemark Association Ivemark II syndrome, asplenia syndrome or Milzagenesie syndrome) is a rare congenital malformation syndrome, which is named after its describer, the Swedish pediatrician Björn Ivemark. It occurs with an incidence of 1:40000 newborns and is characterized by the complete absence of the spleen in combination with various heart defects. Through this combination of malformations, it is a classic representative of a so-called heterotaxy represents the life expectancy of most affected children is significantly limited.

Symptoms

Symptom is the absence of the spleen. In various versions but is also a right shift or a malformation of the spleen, in which many small spleens are spread throughout the abdominal cavity, has been the Ivemark syndrome described belong. This combined and mostly responsible for the limited life expectancy are various complex congenital malformations of the heart as an atrio ventricular septal defect, transposition of the great arteries or a truncus arteriosus communis. Other malformations can affect most of the internal organs. This preferred position anomalies of the gastrointestinal tract occur up to the situs inversus or a three-lobed left lung. Other malformations may additionally exist.

Cause

Although the exact cause is unknown, a genetic cause is suspected. This suggests the fact that the syndrome in addition to sporadic cases also occasionally runs in families, close. In addition, the Ivemark symptom complex is now understood as an expression of various disorders of lateralization, ie, the page allocation of organs, so-called Straight Taxien. Different mutations have been found in several genes for some of these hetero Taxien now.