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Die Innere Medizin
Erschienen in: Der Internist 8/2018

25.06.2018 | Ventrikuläre Tachykardien | Schwerpunkt: Genetik in der Inneren Medizin

Genetische Diagnostik zur Vermeidung des plötzlichen Herztods

verfasst von: B. Stallmeyer, S. Dittmann, Univ.-Prof. Dr. med. E. Schulze-Bahr

Erschienen in: Die Innere Medizin | Ausgabe 8/2018

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Zusammenfassung

Die sinnvolle Implementation von Genuntersuchungen in die klinische Praxis, um einen plötzlichen Herztod zu verhindern, erfordert 1. die exakte, phänotypische Kenntnis der hierfür relevanten erblichen Herz-Kreislauf-Erkrankungen, 2. die exakte Familienerhebung und Ermittlung geeigneter Familienmitglieder mit einem Risiko für einen plötzlichen Herztod, 3. die Auswahl des geeigneten genetischen Tests und Bereitstellung von Informationen über das Testergebnis und die Mutationsdetektionsrate, 4. das Verständnis der pathophysiologischen Komplexität der Erkrankung und der Vielschichtigkeit des genetischen Ergebnisses und eine klare Handhabung in Bezug auf mögliche Zufallsbefunde sowie 5. eine zielgerichtete Kommunikation und individuelle medizinische Beratung über die genetischen und medizinischen Befunde sowie deren Auswirkungen für Patient und Familie. Auch postmortale Genuntersuchungen können zukünftig sinnvoll in der Todesursachenaufklärung werden. Patienten mit erblichen Herz- und Gefäßerkrankungen sollten interdisziplinär und gemeinsam mit Spezialzentren behandelt werden, um eine hohe Fachkompetenz sowie präzise und individuelle Betreuung sicherzustellen.
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Metadaten
Titel
Genetische Diagnostik zur Vermeidung des plötzlichen Herztods
verfasst von
B. Stallmeyer
S. Dittmann
Univ.-Prof. Dr. med. E. Schulze-Bahr
Publikationsdatum
25.06.2018
Verlag
Springer Medizin
Erschienen in
Die Innere Medizin / Ausgabe 8/2018
Print ISSN: 2731-7080
Elektronische ISSN: 2731-7099
DOI
https://doi.org/10.1007/s00108-018-0462-x

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