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Because CPVT is only observable during periods of adrenaline, standard electrocardiograms (EKGs) and echocardiograms are not good diagnostic tests.
Instead, if CPVT is suspected, you or your child will have an exercise stress test (EST). This test utilizes a treadmill or bicycle and records the heart’s function during exercise. (Younger patients too small for the treadmill use a Holter monitor).
EST technology reveals a pattern of extra beats from the ventricles (ventricular ectopy), which become increasingly frequent and more complex as the adrenaline release increases. These extra beats often develop into complex arrhythmias called bidirectional or polymorphic ventricular tachycardia.
Any child or young adult presenting with symptoms of CPVT during periods of exertion or strong emotion should be evaluated by a specialty team with experience diagnosing the condition.
CPVT is caused by a change in the genetic code for a particular cardiac protein called the ryanodine receptor. These genetic variants (also called mutations) lead to a change in the structure and function of the protein, causing it to leak calcium. This in turn triggers the ventricular ectopy and arrhythmias, and can be identified by detailed analysis of the ryanodine receptor gene, RyR2.
Genetic testing in CPVT has become an important part of the overall diagnostic work up. This requires expert interpretation, often within the context of a whole-family evaluation.
We are grateful to have been ranked #1 on U.S. News & World Report's list of the best children's hospitals in the nation for the third year in a row, an honor we could not have achieved without the patients and families who inspire us to do our very best for them. Thanks to you, Boston Children's is a place where we can write the greatest children's stories ever told.”