Genetische Diagnostik bei Kardiomyopathien

Abstract

Cardiomyopathies often have a genetic etiology. New genetic diagnostic strategies based on next generation sequencing (NGS)-approaches will continuously increase our knowledge about the genetic basis of cardiomyopathies within the following years. Diagnostics and therapy of rare, genetically-induced cardiac diseases increasingly require special cardiac and genetic knowledge. Interestingly, mutations in the same gene or even identical gene mutations can be associated with different cardiomyopathy phenotypes and can exhibit incomplete penetrance or variable expressivity. In the future, the correct interpretation and classification of novel gene variants identified in patients with inherited cardiomyopathy forms will represent a great challenge. Genetic counselling and – if appropriate – subsequent genetic testing for cardiomyopathy patients and their asymptomatic relatives is essential for an early diagnosis of the disease, a prognostic evaluation and possibly for the start of preventive or therapeutic measures.

Kardiomyopathien haben häufig eine genetische Ursache. Neue diagnostische Methoden bieten seit kurzem die Möglichkeit, umfassend und schnell genetische Testungen bei Patienten mit genetischen Herzerkrankungen durchzuführen. Dies wiederum führt zu einem besseren Verständnis dieser Krankheitsbilder und beeinflusst auch zunehmend therapeutische Strategien.