Heterotaxia szindrómák familiáris jelentkezése. Esetismertetés és a nemzetközi irodalom áttekintése.

Translated title of the contribution: Familial heterotaxy syndrome. Case report and review of the international literature

I. Cesko, J. Hajdú, T. Marton, L. Tarnai, E. Zs Tóth

Research output: Contribution to journalArticle

2 Citations (Scopus)

Abstract

The authors report two families with two affected siblings of heterotaxy syndrome. Ivemark syndrome with asplenia and complex cardiovascular malformation occurred in two siblings of the first family. The first affected sibling in the second family had situs inversus, transposition of the great arteries with spleen on the right side of the abdomen. Ivemark syndrome with polysplenia and cardiovascular malformation were present in the second affected sibling of the second family. Autosomal recessive inheritance of Ivemark syndrome was reported in the most of the cases, but there are several cases of autosomal dominant inherited Ivemark syndrome. X-linked inheritance of heterotaxy syndrome is also known. Heterotaxy syndromes could also occurred in chromosomal translocation or deletion in sporadic cases. The molecular genetic studies were not able to find the mutation responsible for heterotaxy syndrome. The diagnosis of heterotaxy syndrome could be made by foetal echocardiography until molecular genetic methods are available. Therefore, in the case of positive anamnesis, foetal echocardiography on the 18-20 weeks of gestation is essential diagnostic method.

Original languageHungarian
Pages (from-to)2775-2778
Number of pages4
JournalOrvosi Hetilap
Volume139
Issue number46
Publication statusPublished - Nov 15 1998

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Heterotaxy Syndrome
Echocardiography
Molecular Biology
Situs Inversus
X-Linked Genes
Genetic Translocation
Transposition of Great Vessels
Abdomen
Spleen

ASJC Scopus subject areas

  • Medicine(all)

Cite this

Heterotaxia szindrómák familiáris jelentkezése. Esetismertetés és a nemzetközi irodalom áttekintése. / Cesko, I.; Hajdú, J.; Marton, T.; Tarnai, L.; Zs Tóth, E.

In: Orvosi Hetilap, Vol. 139, No. 46, 15.11.1998, p. 2775-2778.

Research output: Contribution to journalArticle

Cesko, I. ; Hajdú, J. ; Marton, T. ; Tarnai, L. ; Zs Tóth, E. / Heterotaxia szindrómák familiáris jelentkezése. Esetismertetés és a nemzetközi irodalom áttekintése. In: Orvosi Hetilap. 1998 ; Vol. 139, No. 46. pp. 2775-2778.
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