Zusammenfassung
Der enge anatomische und entwicklungsgeschichtliche Zusammenhang der Fehlbildungen des Herzens und der herznahen Abschnitte der großen Gefäße macht es sinnvoll, diese gemeinsam zu behandeln. Sie begegnen dem Humangenetiker vor allem unter dem Aspekt der genetischen Beratung der Eltern oder der Patienten selbst. Die wichtigsten Fragen betreffen das Risiko der Wiederholung bei weiteren Nachkommen der Eltern eines Kindes mit einem angeborenen Herzfehler oder bei den Nachkommen eines Patienten mit einer solchen Fehlbildung. Die Beratung kann sich für die grobe Orientierung auf empirische Zahlen stützen, dieser Ansatz bleibt aber unbefriedigend, solange die Grundlagen der Entstehung solcher Fehlbildungen nicht aufgeklärt und verstanden werden. Das Verstehen der genetischen Grundlagen und eventueller exogener auslösender Faktoren ist auch die Voraussetzung für jeden Versuch, vorbeugend zu wirken.
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Fuhrmann, W. (1993). Humangenetische Aspekte der angeborenen Fehlbildungen des Herzens und der großen Gefäße. In: Pathologische Anatomie des Herzens und seiner Hüllen. Spezielle pathologische Anatomie, vol 22 / 1. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-51156-1_9
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