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DOI: 10.1055/s-0032-1314808
Fetale Lageanomalien und Heterotaxien
Disorders of Laterality and Heterotaxy in the FoetusPublikationsverlauf
eingereicht 19. April 2012
angenommen nach Überarbeitung 07. Mai 2012
Publikationsdatum:
21. Juni 2012 (online)
![](https://www.thieme-connect.de/media/zgn/201203/lookinside/thumbnails/10.1055-s-0032-1314808-1.jpg)
Zusammenfassung
Lageanomalien und Heterotaxien sind mit einer Inzidenz von 1–1,5 auf 10 000 Geburten insgesamt selten und umfassen eine Vielzahl viszerokardialer Anomalien und Fehlbildungen. Vor allem Heterotaxien können mit komplexen kardialen und extrakardialen Fehlbildungen assoziiert sein, die sowohl den antenatalen als auch den postnatalen Verlauf entscheidend beeinflussen. Die pränatale Differenzierung zwischen den beiden klinischen Hauptvarianten Links- und Rechts-Isomerie gelingt durch die Beurteilung des Herzrhythmus, des Verlaufs und der Lage der Hohlvenen und deszendierenden Aorta sowie durch die Beurteilung der begleitenden Fehlbildungen. Eine exakte Diagnose ist Voraussetzung für eine adäquate Beratung der werdenden Eltern und zur Planung der postnatalen Versorgung. Feten mit Links-Isomerien weisen durch eine Kombination aus Bradykardie bei früh, oft im ersten Trimenon einsetzendem AV-Block und konsekutiver Herzinsuffizienz mit Hydrops fetalis eine hohe pränatale Mortalität auf, wohingegen Feten mit Rechts-Isomerie, bedingt durch die Komplexität der assoziierten kardialen Fehlbildungen und assoziierter Milzanomalien, eine höhere Mortalität in der Postnatalperiode aufweisen. Die Art der assoziierten Anomalien und deren Korrigierbarkeit bestimmen die spätere Morbidität der Kinder. Zusätzliche viszerale Anomalien wie Asplenie und Polysplenie mit konsekutiv verminderter Immunabwehr, die pränatal nie sicher ausgeschlossen werden können, komplizieren das Krankheitsbild.
Abstract
Disorders of laterality and heterotaxy syndromes are rare diseases with an incidence of 1–1.5/10 000 live births. They are associated with numerous viscerocardiac anomalies and malformations. In particular, heterotaxy syndromes are associated with complex cardiac and extracardiac malformations that have an important impact on the prenatal and postnatal course. A prenatal differentiation between the 2 main variants of heterotaxy – left and right isomerism – is possible by assessment of cardiac rhythm, anomalies of caval veins and descending aorta and concomittant cardiac and extracardiac anomalies. An exact diagnosis is mandatory for adequate counselling of the parents and planning of postnatal care. Left isomerism has a high intrauterine mortality, caused by early atrioventricular block with subsequent cardiac failure and hydrops. In contrast, right isomerism has a high postnatal mortality due to the more complex type of cardiac defects and splenic disorders. The type of associated cardiac and extracardiac anomalies determines the postnatal morbidity and mortality. Polysplenia and asplenia may be associated with immunological disorders, that cannot be ruled out in the prenatal period, and further complicate the postnatal course.
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