Is There a Role for Genetics in the Prevention of Sudden Cardiac Death?
The identification of patients at risk for sudden cardiac death (SCD) is fundamental for both acquired cardiovascular diseases (such as coronary artery diseases, CAD) and inherited arrhythmia syndromes (such as the long-QT syndrome, LQTS). Genetics may play a role in both situations, although the potential to exploit this information to reduce the burden of SCD varies among these two groups. Concerning acquired cardiovascular diseases, which affect most of the general population, preliminary data suggest an association between genetics and the risk of dying suddenly. The maximal utility, instead, is reached in inherited arrhythmia syndromes, where the discovery of monogenic diseases such as LQTS tracked the way for the first genotype-phenotype correlations. The aim of this review is to provide a general overview focusing on the current genetic knowledge and on the present and future applicability for prevention in these two populations at risk for SCD.
Molecular Cardiology, IRCCS Salvatore Maugeri Foundation, Pavia, Italy.
Alessandro
A
Faragli
Molecular Cardiology, IRCCS Salvatore Maugeri Foundation, Pavia, Italy.
Katherine
K
Underwood
Molecular Cardiology, IRCCS Salvatore Maugeri Foundation, Pavia, Italy. silvia.priori@fsm.it.|Department of Molecular Medicine, University of Pavia, Pavia, Italy. silvia.priori@fsm.it.
Silvia G
SG
Priori
Molecular Cardiology, IRCCS Salvatore Maugeri Foundation, Pavia, Italy.
Andrea
A
Mazzanti
D000818:Animals; D001145:Arrhythmias, Cardiac / Q000209:etiology / Q000235:genetics* / Q000401:mortality / Q000628:therapy*; D053447:Channelopathies / Q000150:complications / Q000235:genetics* / Q000401:mortality; D016757:Death, Sudden, Cardiac / Q000209:etiology / Q000517:prevention & control*; D005819:Genetic Markers; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D006801:Humans; D009154:Mutation; D010641:Phenotype; D057285:Precision Medicine; D011237:Predictive Value of Tests; D011379:Prognosis; D018570:Risk Assessment; D012307:Risk Factors
D005819:Genetic Markers
acquired cardiovascular diseases; genetic testing; inherited arrhythmia syndromes; preventive strategies; sudden cardiac death