CPVT is a rare condition that affects the heart of otherwise fit and healthy people. It causes the heart to beat abnormally quickly, usually at times of exercise (particularly swimming) or times of high emotion, and can result in dizziness, sudden loss of consciousness or even death. It most commonly occurs in children and young adults typically in the first or second decade of life. It was first recognized in 1975. In at least a third of cases, it is familial (inherited), being passed down through the generations. It is a difficult condition to diagnose, because all of the tests taken at a time of rest are normal- including the electrocardiogram (ECG), and the echo cardiogram (ultrasound of the heart). The diagnosis is usually made by detecting extra beats, or runs of fast rhythm arising from the bottom part of the heart, (ventricles), during an exercise test or on a 24 hour ECG.
CPVT typically presents with sudden collapse or severe dizziness, usually associated with exercise (or just after exercise stops) or intense emotional stress. First symptoms appear usually in the first or second decade of life, and may often be mistaken for epilepsy in children. It can also present quite out of the blue with sudden death.
At this time 3 genes are thought to be responsible for CPVT. Ryanodine (RYR2) mutations (abnormalities in the gene sequence), are thought to be responsible for the autosomal dominant (this means that each child born has a 50% chance of inheriting the mutation). In the heart ryanodine is located in the working part of the heart muscle cells that are responsible for making the heartbeat.
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