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Rev. charles schwartz9/12/2023 ![]() Finally, a large reference section provides the interested readers with the sources for the statements presented in this document. The pregnancy-associated risks are considered, as well as the effects of these diseases on the quality of life of the patients. The fact that all these diseases have the potential to trigger life-threatening arrhythmias increases the responsibilities and the concerns of the clinicians who see patients with these conditions only occasionally owing to their rarity, and are, therefore, often ill at ease in taking clinical decisions that may be difficult or impossible to reverse.įollowing a brief overview of epidemiology, genetics and underlying electrophysiological mechanisms, this Primer focuses on the clinical aspects of diagnosis, risk stratification and therapy, including - whenever appropriate - gene-specific management. These four clinical entities share several features: they have an overall low prevalence, their diagnosis is not always simple and they can be fatal. This Primer focuses on the four major channelopathies: long QT syndrome (LQTS), short QT syndrome (SQTS), catecholaminergic polymorphic ventricular tachycardia (CPVT) and Brugada syndrome (BrS). Of note, other types of inherited arrhythmias exist, such as hereditary atrial fibrillation and arrhythmogenic right ventricular cardiomyopathy. These diseases are caused by mutations in genes encoding ion channels. Currently, the greatest interest and challenge concerns the so-called ion channelopathies - inherited conditions related to primary electrical disorders in the setting of a structurally normal heart. The field of inherited arrhythmic disorders is bursting with novel information and data, ranging from genetic findings to advances in diagnosis and risk stratification to progress in personalized - even gene-specific - management. Future research should focus on the identification of genes associated with the diseases and other risk factors, improved risk stratification and, in particular for Brugada syndrome, effective therapies. ![]() All these arrhythmias are potentially life-threatening and have substantial negative effects on the quality of life of patients. Management relies on pharmacological therapy, mostly β-adrenergic receptor blockers (specifically, propranolol and nadolol) and sodium and transient outward current blockers (such as quinidine), or surgical interventions, including left cardiac sympathetic denervation and implantation of a cardioverter–defibrillator. The diagnosis is based on clinical presentation and history, the characteristics of the electrocardiographic recording at rest and during exercise and genetic analyses. The genetic defects lead to alterations in the ionic currents that determine the morphology and duration of the cardiac action potential, and individuals with these disorders often present with syncope or a life-threatening arrhythmic episode. These rare diseases are often the underlying cause of sudden cardiac death in young individuals and result from mutations in several genes encoding ion channels or proteins involved in their regulation. The main inherited cardiac arrhythmias are long QT syndrome, short QT syndrome, catecholaminergic polymorphic ventricular tachycardia and Brugada syndrome. ![]()
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