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.
Schlüsselwörter
Kardiomyopathie - DCM - HCM - Genetische Testung - Kardiogenetik
Keywords
cardiomyopathy - DCM - HCM - genetic testing - cardiogenetics
