ION CHANNEL DEFECTS AND HEREDITARY SUDDEN CARDIAC DEATH

The occurrence of sudden cardiac arrest in the absence of a pre-existing heart disease is rare, but tends to affect relatively young people. In cases where no damage to the heart muscle and the heart valves can be identified (a structurally healthy heart), a so-called ion channel defect is frequently the underlying cause. Ion channel defects are hereditary changes in specific proteins which are responsible for normal cardiac electrical excitation. These changes mean that the heart is considerably more susceptible to developing malignant cardiac arrhythmia in specific circumstances. Examples of hereditary cardiac arrhythmia include Long QT Syndrome, Brugada Syndrome, and Catecholaminergic polymorphic ventricular tachycardia (CPVT). Due to the genetic nature of the predisposition, several family members are often affected. In our special consultation hours for ion channel diseases and hereditary sudden cardiac death, we can provide detailed advice about these rare diseases. For family members who have a genetic predisposition for these diseases but are currently asymptomatic, we try to assess their risk of sudden cardiac death based on current research in order to create an individualised treatment plan.