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Erschienen in: Die Kardiologie 5/2023

30.08.2023 | Angeborene Herzklappenfehler | Konsensuspapiere

Gendiagnostik bei kardiovaskulären Erkrankungen

Konsensuspapier der Deutschen Gesellschaft für Kardiologie (DGK), der Gesellschaft für Humangenetik (GfH) und der Deutschen Gesellschaft für Pädiatrische Kardiologie (DGPK)

verfasst von: Univ.-Prof. Dr. med. E. Schulze-Bahr, S. Klaassen, B. Gerull, Y. von Kodolitsch, U. Landmesser, O. Rieß, B. Meder, H. Schunkert

Erschienen in: Die Kardiologie | Ausgabe 5/2023

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Zusammenfassung

Dieses Konsensuspapier beschreibt die Bedeutung, Vorgehensweise und die gesetzlichen Regelungen der molekulargenetischen Diagnostik bei kardiovaskulären Erkrankungen. Inhaltlich werden konkrete diagnostische Empfehlungen zu hereditären Arrhythmien, Kardiomyopathien, Herz- und Gefäßfehlern, seltenen Syndromen, familiärer Hypercholesterinämie, molekularer Autopsie (plötzlicher Herztod) und Pharmakogenetik gegeben. Das vorherige Positionspapier der DGK/DGPK von 2015 wurde aktualisiert und nun mit der GfH als weitere Fachgesellschaft abgestimmt. Die interdisziplinäre Autorengruppe aus Kardiologen, Kinderkardiologen und Humangenetikern mit Expertise in der Behandlung von kardiovaskulären Erkrankungen von Erwachsenen, Kindern und Jugendlichen trägt mit dieser Aktualisierung dem großen Zuwachs des kardiogenetischen Wissens nach aktuellem Stand Rechnung. Die Hochdurchsatzsequenzierung (Next Generation Sequencing [NGS]) wurde zwischenzeitlich für die klinische Gendiagnostik als Leistung der gesetzlichen Krankenkasse eingeführt, was zu einer deutlich höheren Rate an positiven Befunden geführt hat. Die genetische Diagnostik sollte mit einer humangenetischen Beratung vor und nach der molekulargenetischen Untersuchung einhergehen. Mit der genetischen Diagnose der Erkrankung sind häufig bessere Behandlungsmöglichkeiten und Interventionen verbunden, die die Lebensqualität und Prognose der Patienten verbessern können. Die systematische Untersuchung der Patienten erfordert eine genaue Familienanamnese und die detaillierte Phänotypisierung des Indexpatienten. Weitere Familienmitglieder sollten molekulargenetisch untersucht werden, wenn sich daraus eine diagnostische, therapeutische und/oder prognostische Konsequenz ergibt. Eine molekulargenetische Untersuchung von Kindern und Jugendlichen im Rahmen eines familiären Kaskadenscreenings kann durchgeführt werden, wenn aus dem genetischen Befund unmittelbare, therapeutische Konsequenzen folgen. Insbesondere bei syndromalen Erkrankungen ergibt sich die Notwendigkeit einer interdisziplinären Betreuung. Eine genetische Untersuchung kann über die Beurteilung des Analyseergebnisses (bioinformatische Sequenzauswertung) molekulargenetische Zusatzbefunde generieren. Die genetische Heterogenität und variable Penetranz und die fortschreitenden Erkenntnisse im Bereich der kardiovaskulären Erkrankungen stellen weiterhin eine Herausforderung bei der Betreuung der betroffenen Patienten dar und bedingen eine begleitende Behandlung in spezialisierten Einrichtungen.
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Metadaten
Titel
Gendiagnostik bei kardiovaskulären Erkrankungen
Konsensuspapier der Deutschen Gesellschaft für Kardiologie (DGK), der Gesellschaft für Humangenetik (GfH) und der Deutschen Gesellschaft für Pädiatrische Kardiologie (DGPK)
verfasst von
Univ.-Prof. Dr. med. E. Schulze-Bahr
S. Klaassen
B. Gerull
Y. von Kodolitsch
U. Landmesser
O. Rieß
B. Meder
H. Schunkert
Publikationsdatum
30.08.2023

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