Catecholaminergic polymorphic ventricular tachycardia

What is Catecholaminergic polymorphic ventricular tachycardia?

Catecholaminergic polymorphic ventricular tachycardia (CPVT) is an abnormally fast heartbeat that frequently occurs during exercise or emotional stress. While heart rate normally increases during exercise and emotional stress, CPVT causes a faster than expected and abnormal heartbeat. An individual with CPV usually has a normal heartbeat while resting.

Some basic facts about Catecholaminergic polymorphic ventricular tachycardia

As an estimate, CPVT affects about 1 in 10,000 individuals.

An individual with CPVT may experience fainting during exercise or emotional stress. They may also feel heart palpitations or a racing heart at these times. This abnormally fast and abnormal heart rate may return to normal on its own or it may persist and lead to cardiac arrest. These symptoms are common in individuals with CPVT who are not on treatment: 80% will experience fainting and 30% will have a cardiac arrest. Death from cardiac arrest may be the first sign of CPVT.

What causes Catecholaminergic polymorphic ventricular tachycardia and how is it diagnosed?

CPVT is an inherited disorder known to be caused by variants in several genes.
CPVT is diagnosed clinically based on specific heartbeat pattern on electrocardiogram (ECG/EKG) during exercise or induced emotional stress and family history.
Individuals with no symptoms can be diagnosed with CPVT if they have genetic variant(s) known to cause CPVT.

Role of genetics in diagnosis

Genetic testing can be used to establish a diagnosis of CPVT in individuals without clinical symptoms and confirm a diagnosis of CPVT in individuals with clinical symptoms.
In a person with a clinical diagnosis of CPVT, a negative genetic test result does not mean they do not have CPVT. It simply means the genetic test did not identify the cause for their CPVT. Not everyone with CPVT will have a positive genetic test result.

How is Catecholaminergic polymorphic ventricular tachycardia treated?

CPVT may be treated through a combination of medication to control the heartbeat, lifestyle adjustments, and when appropriate, implantation of cardioverter defibrillator (ICD) to monitor and reestablish typical heartbeat. Your cardiologist can help you to make informed medical decisions and provide an opportunity to start risk reduction strategies.

Role of genetics in treatment

No specific differences have been established among CPVT caused by different genes and patients with CPVT are treated based on symptoms regardless of the cause of their condition.

If the genetic cause of CPVT is identified in an individual, genetic testing for their family members may be indicated to assess their risk for CPVT and the need for possibly life-saving treatment. Family testing is important because relatives may be at risk regardless of whether or not they are experiencing any symptoms.

How do I arrange for genetic testing?

Your physician will assist you in identifying and arranging for the appropriate genetic test(s). If you have specific questions or concerns about the testing, your physician may refer you to a genetic counselor to discuss further. Once you are ready to proceed with genetic testing, you will need to submit either a blood or saliva sample.

Other names for Catecholaminergic polymorphic ventricular tachycardia

Catecholamine-Induced Polymorphic Ventricular Tachycardia (CPVT)