TY - JOUR
T1 - Genetic testing in cardiovascular diseases
AU - Hofman, Nynke
AU - van Langen, Irene
AU - Wilde, Arthur A. M.
PY - 2010
Y1 - 2010
N2 - To review the current state and different aspects, including the yield, of genetic counseling and genetic testing in inherited heart disease. 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. 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
AB - To review the current state and different aspects, including the yield, of genetic counseling and genetic testing in inherited heart disease. 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. 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
U2 - https://doi.org/10.1097/HCO.0b013e3283374d69
DO - https://doi.org/10.1097/HCO.0b013e3283374d69
M3 - Review article
C2 - 20164764
SN - 0268-4705
VL - 25
SP - 243
EP - 248
JO - Current opinion in cardiology
JF - Current opinion in cardiology
IS - 3
ER -