TY - JOUR
T1 - Cardiovascular genetics
T2 - Technological advancements and applicability for dilated cardiomyopathy
AU - Kummeling, G. J. M.
AU - Baas, A. F.
AU - Harakalova, M.
AU - van der Smagt, J. J.
AU - Asselbergs, F. W.
PY - 2015/7/1
Y1 - 2015/7/1
N2 - Genetics plays an important role in the pathophysiology of cardiovascular diseases, and is increasingly being integrated into clinical practice. Since 2008, both capacity and cost-efficiency of mutation screening of DNA have been increased magnificently due to the technological advancement obtained by next-generation sequencing. Hence, the discovery rate of genetic defects in cardiovascular genetics has grown rapidly and the financial threshold for gene diagnostics has been lowered, making largescale DNA sequencing broadly accessible. In this review, the genetic variants, mutations and inheritance models are briefly introduced, after which an overview is provided of current clinical and technological applications in gene diagnostics and research for cardiovascular disease and in particular, dilated cardiomyopathy. Finally, a reflection on the future perspectives in cardiogenetics is given.
AB - Genetics plays an important role in the pathophysiology of cardiovascular diseases, and is increasingly being integrated into clinical practice. Since 2008, both capacity and cost-efficiency of mutation screening of DNA have been increased magnificently due to the technological advancement obtained by next-generation sequencing. Hence, the discovery rate of genetic defects in cardiovascular genetics has grown rapidly and the financial threshold for gene diagnostics has been lowered, making largescale DNA sequencing broadly accessible. In this review, the genetic variants, mutations and inheritance models are briefly introduced, after which an overview is provided of current clinical and technological applications in gene diagnostics and research for cardiovascular disease and in particular, dilated cardiomyopathy. Finally, a reflection on the future perspectives in cardiogenetics is given.
UR - https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=84937418854&origin=inward
UR - https://www.ncbi.nlm.nih.gov/pubmed/26031632
U2 - https://doi.org/10.1007/s12471-015-0700-y
DO - https://doi.org/10.1007/s12471-015-0700-y
M3 - Review article
C2 - 26031632
SN - 1568-5888
VL - 23
SP - 356
EP - 362
JO - Netherlands heart journal
JF - Netherlands heart journal
IS - 7-8
ER -