Sudden Cardiac Death and Genetic Ion Channelopathies

A Prospective Study of Sudden Cardiac Death among Children and Young Adults

“…A thorough clinical evaluation of surviving at-risk family members is nonetheless strongly recommended and may be supplemented by a molecular autopsy. 4,6,37,38 Our study has several limitations. First, although every available national resource was used to identify cases of sudden cardiac death over the 3-year study period, some cases were not considered because our study did not include cases that had insufficient details to determine with certainty whether the death was sudden, and cases in which the body was found more than 24 hours after the person was last seen alive were not included.…”

“…Coronary artery disease is the predominant cause of sudden cardiac death in older persons, 1 whereas among persons 1 to 35 years of age, sudden cardiac death is more often caused by structural heart disease, including hypertrophic cardiomyopathy, dilated cardiomyopathy, arrhythmogenic right ventricular cardiomyopathy, myocarditis, and primary arrhythmogenic disorders (such as the congenital long-QT syndrome, the Brugada syndrome, and catecholaminergic polymorphic ventricular tachycardia). [2][3][4][5] Many of these cardiac causes of sudden cardiac death among children and young adults have an underlying genetic basis. 6,7 Estimates in studies of the incidence of sudden cardiac death vary widely owing to differences in the age range of the various study populations; in addition, studies are often limited by small sample size and by retrospective and non-population-based study designs.…”

Pre-participation screening for the prevention of sudden cardiac death in athletes

“…This document indicates guidelines for all the cardiovascular diseases, including high risk early repolarization patterns, isolated left ventricle non-compaction as well as many other doubtful conditions [24] . The huge experience obtained with PPS in Italy, clearly indicates that ECG, characterized by an excellent negative predictive value, when compared with only physical examination, is an essential tool to suspect or diagnose cardiac structural and electric channels pathologies [20,25] . The usefulness of ECG as a preventive tool during PPS, is underlined by one of the most significant studies of Corrado, showing how the annual incidence of SCD in competitive athletes decreased by 89% in Italy, after the introduction of PPS.…”

Almanac 2013: cardiac arrhythmias and pacing

“…The genetics of inherited cardiac conditions and how specific genotypes can lead to clinical manifestations of disease, affect SCD risk or guide management continues to attract intense interest (105)(106)(107)(108). Results from the DARE (Drug-induced Arrhythmia Risk Evaluation) study, in which 167 single nucleotide polymorphisms spanning the NOS1AP gene, were evaluated in 58 Caucasian patients who had experienced drug induced QT prolongation and 87 Caucasian controls, demonstrated that common variations in the NOS1AP gene were associated with a significant increase in drug induced long QT syndrome (109).…”