Current opinion in cardiology · 2011
Genetic predisposition to sudden cardiac death.
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Crotti Lia
Аннотация
PURPOSE OF REVIEW: Sudden cardiac death (SCD) is a major public health burden, and evidence from family history and from molecular studies on inherited arrhythmogenic syndromes indicates that genetic factors are important contributors to the risk of SCD. This review discusses recent advances on the genetic predisposition to SCD, with a specific focus on primary ventricular fibrillation and channelopathies.
RECENT FINDINGS: Coronary artery disease is the major determinant of SCD, and its predisposing genetic background is complex. Very recently, a first genome-wide association study on primary ventricular fibrillation was published but the results are not conclusive and further studies with greater numbers are needed. Among channelopathies, long QT syndrome and Brugada syndrome are those in which more significant advances have been reported in the last year. Of note is the recently described early repolarization syndrome and the proposed classification of J wave syndromes. Revision of current guidelines for autopsy investigation has introduced molecular autopsy as a standard requirement for adequate assessment of SCD.
SUMMARY: 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.
RECENT FINDINGS: Coronary artery disease is the major determinant of SCD, and its predisposing genetic background is complex. Very recently, a first genome-wide association study on primary ventricular fibrillation was published but the results are not conclusive and further studies with greater numbers are needed. Among channelopathies, long QT syndrome and Brugada syndrome are those in which more significant advances have been reported in the last year. Of note is the recently described early repolarization syndrome and the proposed classification of J wave syndromes. Revision of current guidelines for autopsy investigation has introduced molecular autopsy as a standard requirement for adequate assessment of SCD.
SUMMARY: 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.