Genetics and genetic testing of dilated cardiomyopathy: a new perspective.

摘要: The completion of the Human Genome Project was a landmark achievement, but as clinical genetic testing becomes more mainstream, extent remarkable variation is increasingly being appreciated. Newer DNA sequencing technology can now complete an entire human genome several times over in matter days, this will undoubtedly add new challenges to difficulty distinguishing true pathogenic variants from benign diagnostic genetics and research setting. recent discovery role titin gene (TTN) mutations dilated cardiomyopathy (DCM) make disease efficient. Furthermore, better understanding genotype-phenotype associations assist clinicians identifying early stages providing appropriate treatments. This high level complexity requires expert team offer counseling manage, deliver, follow-up time results testing, which particularly important for screening family members potentially at risk. In DCM, may be useful identification non-carriers asymptomatic carriers, well prevention strategies, sport recommendations, defibrillator implantation. It also guide reproductive decision-making including utilization pre-implantation strategies.