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Genetische Risikofaktoren für den Myokardinfarkt

Genetic risk faktors for myocardial infarction

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Zusammenfassung

In der Pathogenese der koronaren Herzerkrankung und des Myokardinfarkts spielen sowohl genetische Faktoren als auch Umwelteinflüsse und deren Interaktionen eine große Rolle. In ihrer Kausalität noch am wenigsten verstanden ist jedoch die genetisch determinierte familiäre Belastung — oder positive Familienanamnese —, die in großen Studien neben dem LDL-Cholesterin als wichtigster Risikofaktor identifiziert wurde. Insbesondere bei Auftreten eines akuten Myokardinfarkts bei sehr jungen Patienten wird die genetische Belastung als der führende kausale Faktor diskutiert. Die Bedeutung der erblichen Belastung ist jedoch nicht klar definiert. Zahlreiche Kandidatengene sowie genetische Polymorphismen wurden identifiziert, die bei der Blutdruckregulation, im Lipidmetabolismus, bei der Endothelfunktion, bei der Thrombusbildung oder Gerinnungskaskade oder auch in der interventionellen Kardiologie bedeutsam scheinen.

Die Aufklärung der genetischen Faktoren kardiovaskulärer Erkrankungen steht an ihrem Anfang, es ist jedoch zu erwarten, daß das Wissen um die Bedeutung und funktionelle Relevanz genetischer Faktoren eine effektivere Prävention und Therapie bei Patienten erlaubt, deren genetisches Profil ein erhöhtes Risiko beinhaltet.

Abstract

Interactions of genetic and environmental risk factors influence the susceptibility to coronary artery disease (CAD) and myocardial infarction. In myocardial infarction occurring at young age, genetics of this multifactorial disease may be the leading factor. A number of candidate genes have been implicated in the pathogenesis of CAD and myocardial infarction. Mutations in the DNA sequence (gene polymorphisms) have been identified that appear to play a crucial role in blood pressure regulation, lipid metabolism, endothelial function, in the pathophysiology of coagulation or thrombosis, or in interventional cardiology by interfering with restenosis development. Genetic polymophisms seem to be clinically important because they not only potentiate the individual risk under certain circumstances, but they also determine safety and effectiveness of commonly prescribed drugs.

Understanding the complexity and functional relevance of genetic risk factors will be useful in early detection and treatment of individuals that are exposed to higher risk for myocardial infarction. Thus it is important to include genetic risk factors in the concept of the classical risk factor theory. Potentially in future a genetic risk profile including relevant polymorphisms may be an essential part of the clinicians' knowledge in primary and secondary prevention of coronary artery disease.

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  1. Medizinische Klinik IV; Abteilung Kardiologie, Johann-Wolfgang-Goethe-Universität Frankfurt/Main, Theodor-Stern-Kai 7, D-60590, Frankfurt/Main

    Dirk H. Walter & Andreas M. Zeiher

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Walter, D.H., Zeiher, A.M. Genetische Risikofaktoren für den Myokardinfarkt. Herz 25, 7–14 (2000). https://doi.org/10.1007/BF03044119

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