362 research outputs found

    Genetic predisposition to sudden cardiac death.

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    Interesting data on the genetic basis of sudden cardiac death have been published in the past year, and, whereas in the field of channelopathies research findings have been partially recognized by current guidelines and translated into clinical practice, in the field of coronary artery disease further advances are still needed

    Congenital long QT and short QT syndromes

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    The most recent findings of Long and Short QT Syndrome are presente

    The role of genetics in primary ventricular fibrillation, inherited channelopathies and cardiomyopathies.

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    Sudden cardiac death (SCD) has a strong familial component; however, our understanding of its genetic basis varies significantly according to the underlying causes.When coronary artery disease is involved, the predisposing genetic background is complex and despite some interesting findings it remains largely unknown. Quite different is the case of monogenic structural and non-structural heart diseases, in which a number of diseasecausing genes have been established and are being used in clinical practice. As SCD can be the first clinical manifestation of inherited syndromes, in order to ascertain the cause of death, it is extremely important to include molecular autopsy among the standard post-mortemexaminations. Indeed, molecular screening of the major disease-causing genes in the deceased person is often the only way to achieve a post-mortem diagnosis in channelopathies, which may prove crucial for the identification and management of at risk family members. Overall, these data, togetherwith the inclusion in current guidelines of molecular screening for diagnosis and/or risk stratification of specific inherited cardiac diseases, exemplify how research on the genetic basis of SCD may be deeply translational, while the transition of genetic testing from the research to the diagnostic setting is already improving every-day clinical practice
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