Molecular Genetics in Cardiology
Genetics and genomics are being introduced rapidly into clinical practice. Knowledge on genes and gene defects, gene expression and gene products are being gathered as part of the recently completed human genome project at a rapid pace [1,2]. The genetic cause of the vast majority of important monogenie disorders is known, the more rare disorders are being unravelled fast. Technical developments enable molecular geneticists an accelerated and detailed characterization of genetic defects, predisposition or background of individual patients. The introduction of genetic tests for heritable cardiac abnormalities is of a recent nature. Disorders, like the Long QT-syndrome, Brugada syndrome or hypertrophic and dilated cardiomyopathies have only recently been unravelled and research is ongoing to improve DNA-diagnostics [3,4], Genetic testing offers many opportunities, but also a considerable number of risks and uncertainties, and introduction in the clinic has to be performed with great care. Not every test that can be done, should be done. It is evident that genetic testing must be beneficial for the patient. If he or she is affected, then the test can either be performed to make or confirm a diagnosis or to predict prognosis and adjust treatment. It is clear that a genetic test affects not only the patient involved, but also concems relatives or future off spring. Even if patients are unaffected, it is possible to determine their genetic status and to predict what the chances will be of developing symptoms in the years to follow.
KeywordsGenetic Testing Gene Defect Familial Hypercholesterolemia Brugada Syndrome Monogenic Disorder
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