PURPOSE OF REVIEW: Sudden cardiac death (SCD) affects a significant percentage of young individuals. SCDs are due to genetic heart disorders, such as cardiomyopathies and channelopathies. In the present review, we will describe the recent advancements in understanding the genetic and molecular basis of hereditary cardiac diseases. RECENT FINDINGS: Considerable progress has been made in identification of new genes associated with monogenic familial arrhythmogenic syndromes, giving the opportunity to delineate their molecular pathogenesis and identify potential targets for therapeutic intervention. Research discoveries and rapidly dropping costs of DNA sequencing technologies have resulted in availability of genetic testing panels. SUMMARY: Advances in genetic sequencing technology are expected to significantly impact the clinical practice in the near future. Genetic testing represents a powerful tool for cause determination of arrhythmogenic cardiac diseases, efficient screening of family members, possible risk stratification and treatment choices. However, specific expertise is required for rational ordering and correct interpretation of the genetic screening results. © 2013 Wolters Kluwer Health | Lippincott Williams &Wilkins.
Genetics and sudden death / Lombardi, R.. - In: CURRENT OPINION IN CARDIOLOGY. - ISSN 0268-4705. - 28:3(2013), pp. 272-281. [10.1097/HCO.0b013e32835fb7f3]
Genetics and sudden death
Lombardi R.
2013
Abstract
PURPOSE OF REVIEW: Sudden cardiac death (SCD) affects a significant percentage of young individuals. SCDs are due to genetic heart disorders, such as cardiomyopathies and channelopathies. In the present review, we will describe the recent advancements in understanding the genetic and molecular basis of hereditary cardiac diseases. RECENT FINDINGS: Considerable progress has been made in identification of new genes associated with monogenic familial arrhythmogenic syndromes, giving the opportunity to delineate their molecular pathogenesis and identify potential targets for therapeutic intervention. Research discoveries and rapidly dropping costs of DNA sequencing technologies have resulted in availability of genetic testing panels. SUMMARY: Advances in genetic sequencing technology are expected to significantly impact the clinical practice in the near future. Genetic testing represents a powerful tool for cause determination of arrhythmogenic cardiac diseases, efficient screening of family members, possible risk stratification and treatment choices. However, specific expertise is required for rational ordering and correct interpretation of the genetic screening results. © 2013 Wolters Kluwer Health | Lippincott Williams &Wilkins.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
