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.
Center for Cardiovascular Genetics, Institute of Molecular Medicine, University of Texas Health Sciences Center at Houston, Houston, Texas, USA
Correspondence to Raffaella Lombardi, MD, PhD, Center for Cardiovascular Genetics, Institute of Molecular Medicine, University of Texas Health Sciences Center, Texas Heart Institute at St Luke's Episcopal Hospital, 6770 Bertner Street, DAC-950f, Houston, TX 77030, USA. Tel: +1 713 500 2344; fax: +1 713 383 0313; e-mail: Raffaella.Lombardi@uth.tmc.edu