Arrhythmogenic hereditary syndromes: Brugada Syndrome, long QT syndrome, short QT syndrome and CPVT.
In approximately 10-20% of all sudden deaths no structural cardiac abnormalities can be identified. Important potential causes of sudden cardiac deaths in the absence of heart disease are primary electrical diseases such as Brugada syndrome, long QT syndrome (LQTS), short QT syndrome and catecholaminergic polymorphic ventricular tachyarrhythmias. Each of these cardiac channelopathies is charaterized by unique genetic and clinical features. The resting ECG and the ECG under exercise are pivotal for the diagnosis of ion channel diseases. Molecular genetic screening can reveal underlying mutations in a variable degree among the cardiac ion channel diseases in up to 70% (LQTS) and may identify individuals with incomplete penetration of the disease. In patients with primary electrical diseases specific clinical triggers for arrhythmic events such as syncope or sudden cardiac death have been identified including exercise, strenuous activity, auditory stimuli or increased vagal tone. The significance of programmed ventricular stimulation is at present unclear concerning risk stratification in patients with Brugada syndrome and short QT syndrome and of no significance in long QT syndrome and catecholaminergic polymorphic ventricular tachycardias. The success of medical therapy remains modest for prevention of sudden cardiac death and may necessitate the insertion of an implantable cardioverter. However, side effects with inappropriate therapies in this patient group with often young and active individuals have to be encountered. More insights into the arrhythmogenesis is critical for future development of effective medical treatment strategies.
First Department of Medicine-Cardiology, University Hospital Mannheim, Mannheim, Germany. rainer.schimpf@umm.de
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Schimpf
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Veltmann
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Wolpert
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Borggrefe
D001145:Arrhythmias, Cardiac / Q000175:diagnosis; D053840:Brugada Syndrome / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology / Q000628:therapy; D016757:Death, Sudden, Cardiac / Q000209:etiology / Q000517:prevention & control; D017147:Defibrillators, Implantable; D004562:Electrocardiography; D005080:Exercise Test; D006329:Heart Conduction System / Q000503:physiopathology*; D006801:Humans; D008133:Long QT Syndrome / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology / Q000628:therapy; D012146:Rest; D017180:Tachycardia, Ventricular / Q000175:diagnosis; D000098850:Polymorphic Catecholaminergic Ventricular Tachycardia