Catecholaminergic Polymorphic Ventricular Tachycardia: Difference between revisions

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'''Diagnosis'''
'''Diagnosis'''
*The diagnosis is based on the patient's clinical history (dizziness or syncope induced by exercise or emotional stress and a family history containing syncope or sudden death in young relatives related to similar triggers) and reproducible ventricular arrhythmias during [[Exercise Testing|exercise testing]]. The complexity of these arrhythmias often increases with increasing work load, starting with [[Ventricular Premature Beats]], bidirectional [[Ventricular Tachycardia|ventricular tachycardia]] to [[Ventricular Tachycardia|polymorphic ventricular tachycardia]].  
*The diagnosis is based on the patient's clinical history (dizziness or syncope induced by exercise or emotional stress and a family history containing syncope or sudden death in young relatives related to similar triggers) and reproducible ventricular arrhythmias during [[Exercise Testing|exercise testing]]. The complexity of these arrhythmias often increases with increasing work load, starting with [[Ventricular Premature Beats]], and ending with bidirectional [[Ventricular Tachycardia|ventricular tachycardia]] to [[Ventricular Tachycardia|polymorphic ventricular tachycardia]].  
*Two genes have been linked to CPVT. Both lead to a defect in intracellular calcium metabolism:
*Two genes have been linked to CPVT. Both lead to a defect in intracellular calcium metabolism:
** the hRyR2 gene, coding for the cardiac ryanodine receptor: ([[w:OMIM|OMIM™]] link {{OMIM2|180902}}) (50-55 % of patients)
** the hRyR2 gene, coding for the cardiac ryanodine receptor: ([[w:OMIM|OMIM™]] link {{OMIM2|180902}}) (50-55 % of patients)

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