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Re: Ivemark syndromeFrom: Joshua Copel (joshua.copel@yale.edu)Sat Jan 9 19:15:14 1999
RE>Ivemark syndrome 1/9/99 Mary is correct. Ivemark syndrome is the eponym for the heterotaxia syndromes, which can involve bilateral right sidedness, bilateral left sidedness, or seemingly virtually any combination thereof. We have seen prenatal cases with as little as an interrupted inferior vena cava, and others with the fullblown picture of severe congenital heart disease with midline livers, asplenia and lots of other bizarre anatomy. It must be distinguished from Kartagener syndrome, which has situs inversus with a structurally normal heart, bronchiectasis and immotile cilia The genetics are interesting. The books say that autosomal dominant, autosomal recessive and X linked inheritance has been described. There is a mouse model for this mapped to an area of the mouse genome with a high degree of correspondence to part of the human genome. Affected mice can be indifferent to situs, rather than necessarily abnormal. In other words, an affected individual might have a 50-50 chance of normal situs or abnormal situs. Makes Mendel's rules go out the window. We would tell any family with a previously affected child that there may be as high as a 25% chance of recurrence, although if the above is true actual recurrence of clinical disease might only be 12.5%. If this family, or any other affected family is interested in contributing blood, amniotic fluid or tissue DNA for human studies ongoing at Yale please contact Dr. Peter Bowers at the cc address in the header of this message. Samples can be shipped from anywhere. (This study involves banking DNA for future evaluation. No clinical information about current pregnancies or patients is anticipated. Medical professionals only, please.) Original reference: Ivemark, B. I. : Implications of agenesis of the spleen on the pathogenesis of cono-truncus anomalies in childhood: analysis of the heart malformations in splenic agenesis syndrome, with fourteen new cases. Acta Paediat. 44 (suppl. 104): 1-110, 1955. More info via Online Mendelian Inheritance in Man <http://www3.ncbi.nlm.nih.gov/Omim/searchomim.html> Josh Copel (in house attending with too much time on my hands tonight, I guess) Joshua.Copel@Yale.edu -------------------------------------- Terry -------------------------------------- Ivemark Syndrome is Asplenia/bilateral right-sidedness. Severe A-V -- -------------------------------------- canal defects or univentricular heart,TAPVR, bilateral tri-lobed lungs, absent spleen, midline stomach. Mary C. Scarboro
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