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Abstract
Up to 14,500 young individuals die suddenly every year in Europe of cardiac pathologies. The majority of these tragic events are related to a group of genetic defects that predispose the development of malignant arrhythmias (inherited arrhythmogenic diseases [IADs]). IADs include both cardiomyopathies (hypertrophic cardiomyopathy, arrhythmogenic right ventricular cardiomyopathy, dilated cardiomyopathy) and channelopathies (long QT syndrome, short QT syndrome, Brugada syndrome and catecholaminergic polymorphic ventricular tachycardia). Every time an IAD is identified in a patient, other individuals in his/her family may be at risk of cardiac events. However; if a timely diagnosis is made, simple preventative measures may be applied. Genetic studies play a pivotal role in the diagnosis of IADs and may help in the management of patients and their relatives.
Financial & competing interests disclosure
This work was supported by Telethon grants Nos. GGP11141 and GGP06007 (to SGP), Italian Ministry of health RFMAU207641137D (to SGP), CARIPLO pr.2008.2275, Foundation Leducq Award to the Alliance for Calmodulin Kinase Signaling in Heart Disease (08CVD01; to SGP). The authors have no other relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript apart from those disclosed.
No writing assistance was utilized in the production of this manuscript.
Key issues
Sudden cardiac death in individuals under the age of 40 years have an alarming incidence of up to six events per 100,000 person-years, corresponding to 14,500 deaths in Europe and 10,000 deaths in the USA every year.
The majority of SCD in the young are due to a group of genetic defects, inherited arrhythmogenic diseases (IADs), which predispose individuals to the development of life-threatening arrhythmias. The genetic nature of IADs implies that when a person is affected, others in the family might be at risk.
The diagnosis of IADs in the presymptomatic phase is feasible, allowing for preventative measures to be initiated (including lifestyle modifications, medications and devices). Genetic studies may help in uncovering asymptomatic individuals with a concealed phenotype, but who are still at risk of cardiac events.
Cardiomyopathies are IADs characterized by structural and functional changes in cardiac muscles that enhance the risk for arrhythmias. The most prevalent cardiomyopathies include: hypertrophic cardiomyopathy, arrhythmogenic right ventricular cardiomyopathy and dilated cardiomyopathy.
Channelopathies are IADs caused by mutations in genes encoding for ion channel proteins of the cardiomyocytes. These mutations disrupt the balance of currents in the cardiac action potential, favoring the onset of arrhythmias in the absence of structural heart defects. Channelopathies include: long QT Syndrome, short QT Syndrome, Brugada Syndrome and catecholaminergic polymorphic ventricular tachycardia.