Genetische Untersuchungen in der Kardiologie – „Hands-on“

Zusammenfassung

Viele, obgleich seltene Herzerkrankungen, sind familiär und haben eine genetische Ursache. Neben Kardiomyopathien und idiopathischen Herzrhythmusstörungen gibt es zunehmend Hinweise, dass auch angeborene Herzfehler genetisch verursacht sind. Die Bewertung eines molekulargenetischen Befundes hinsichtlich der klinischen Ausprägung und die sorgsame Aufarbeitung der Familienanamnese stellen weiterhin Anforderungen dar, die im üblichen, fachärztlichen Kontext mit Zeitaufwand und Detailliebe verbunden und daher nicht so einfach zu bewältigen sind. In der beiliegenden Kurzübersicht finden sich daher praktische Hinweise zu den gesetzlichen Rahmenbedingungen und zu genetischen Grundlagen einiger ausgewählter Erkrankungen.

Abstract

To date, inherited cardiac disorders are quite rare and have a multifactorial genetic basis. In addition to cardiomyopathies and primary electrical heart diseases also some of the congenital heart diseases are going to be deciphered as genetically determined, at least in part. In consequence, knowledge of the current national legal conditions to perform genetic testing is important for cardiologists. This will be part of the following short summary.

Schlüsselwörter

Genetik - Kardiologie - Gendiagnostikgesetz - Kardiomyopathien - primär elektrische Herzerkrankungen

Key words

genetics - cardiology - German gene diagnostic law - cardiomyopathies - primary electrical heart diseases

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