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18th World Congress on Heart Disease



Luisa Mestroni, M.D., University of Colorado, CO, USA


Clinical genetic testing is becoming more mainstream in inherited disorders, such as cardiomyopathies. At the same time, newer DNA sequencing technology can now complete the sequencing of an entire human genome several times over in a matter of days, in an efficient and cost effective manner. However, the extent of remarkable genetic variation is increasingly being appreciated and this undoubtedly adds new challenges to the difficulty of distinguishing true pathogenetic variants from benign variants in diagnostic genetics and in the research setting. In dilated cardiomyopathy (DCM), the recent discovery of high frequency of titin gene mutations will make genetic testing more efficient and clinically useful in this disease. Furthermore, better understanding of genotype-phenotype associations, in particular concerning genes associated with poor prognosis and arrhythmogenic traits, will assist the clinician in identifying early stages of disease and providing more appropriate treatments. This high level of complexity requires an expert genetic team for counseling, manage, deliver and follow-up over time the results of genetic testing, which is particularly important for screening of family members potentially at risk. In DCM, genetic testing may be useful for the identification of non-carriers and asymptomatic carriers, as well as for prevention strategies, sport recommendations, defibrillator implantation and to guide reproductive decision-making including utilization of pre-implantation genetic diagnostic strategies.




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