Cardiovascular genetics: Technological advancements and applicability for dilated cardiomyopathy

G. J. M. Kummeling, A. F. Baas, M. Harakalova, J. J. van der Smagt, F. W. Asselbergs

Research output: Contribution to journalReview articleAcademicpeer-review

3 Citations (Scopus)

Abstract

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.
Original languageEnglish
Pages (from-to)356-362
JournalNetherlands heart journal
Volume23
Issue number7-8
DOIs
Publication statusPublished - 1 Jul 2015
Externally publishedYes

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