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Sammanfattning

Sudden cardiac death in the young individual is dramatic and tragic, but is fortunately a rare event. Genetic analyses have provided cardiologists with more information regarding possible causes when a standard autopsy is negative. Identification of a disease causing mutation has impact both for the patient with aborted cardiac arrest and for the family members. Family members can be tested for the family mutation, and be offered prophylactic treatment if mutation positive. Most commonly, ion channel disease is suspected in sudden cardiac death with a structurally normal heart. In these conditions, ion channel dysfunction causes altered electrical currents, which may result in ventricular arrhythmias, syncope or sudden cardiac death. Typical ion channelopathies are long QT syndrome, short QT syndrome, catecholaminergic polymorphic ventricular tachycardia and Brugada syndrome. Also blunt trauma to the chest (known as commotio cordis) may elicit ventricular fibrillation and cause sudden cardiac death in structurally normal hearts.

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