Genetic testing in cardiovascular diseases.
OBJECTIVE
To review the current state and different aspects, including the yield, of genetic counseling and genetic testing in inherited heart disease.


RESULTS
The number of counselees is growing rapidly all over the world, and the first studies about patients' perspectives and follow-up have been published. Progress has been made by gene-specific studies on long QT syndrome to judge the relevance of detected mutations in the specific domains.


CONCLUSIONS
With the increasing identification of associated genes and available techniques in molecular testing of the inherited heart diseases, the diagnostic yield of mutation analysis is growing rapidly. To determine the relevance of all these mutations, ongoing research is needed. Furthermore, the process of genetic counseling can be optimized and extended with cascade screening, which leads to identifying patients at risk and timely treatment.
Hofman
Nynke
N
Department of Clinical Genetics, Academic Medical Center, Amsterdam, The Netherlands.
van Langen
Irene
I
Wilde
Arthur A M
AA
D001145:Arrhythmias, Cardiac / Q000235:genetics; D009202:Cardiomyopathies / Q000235:genetics; D002318:Cardiovascular Diseases / Q000235:genetics*; D005817:Genetic Counseling / Q000379:methods*; D005820:Genetic Testing / Q000379:methods*; D006801:Humans; D009154:Mutation; D009426:Netherlands