About Cardiac Channelopathies

What are cardiac channelopathies?
The heart has an electrical system that controls the heartbeat and other important functions. It is controlled by pores in the heart called ion channels. Cardiac channelopathies occur when the proteins forming these channels do not function properly. In some patients, cardiac channelopathies cause noticeable symptoms from an early age, but in others they can go undetected for years until unexpectedly causing symptoms.
Symptoms from cardiac channelopathies may occur spontaneously in the hereditary disorders or be caused by reactions to certain drugs. Regardless of the trigger, the heart can beat irregularly causing symptoms such as fainting or seizures and lead to the diagnosis or tentative diagnosis of potentially dangerous conditions, such as:

• Long QT Syndrome (LQTS)
• Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT)
• Brugada Syndrome  (BrS)

Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT)
CPVT is an inherited disorder that causes abnormal electrical activity in the heart.  This abnormal activity often occurs during exercise, physical activity or in stressful or emotional situations.

Causes of CPVT
CPVT is caused by abnormal ion channels in the heart.  This can cause ventricular tachycardia, an extremely rapid heartbeat that originates in the ventricles of the heart. This ventricular tachycardia is believed to be triggered by the release, under stress, of certain hormones, called catecholamines. Ventricular tachycardia is a potentially life-threatening arrhythmia because it may lead to ventricular fibrillation and possibly sudden death.  CPVT is hereditary, so it’s important for both you and your family members to be tested.

Diagnosis of CPVT
Your doctor may suspect that you have CPVT based on your symptoms and specific abnormal findings on an exercise stress test.  Unlike LQTS, a resting ECG for an individual with CPVT will almost always be normal. This may lead your physician to recommend that you undergo an exercise stress test.  A specific abnormal arrhythmia on the exercise stress test will often confirm a CPVT diagnosis, however, in some cases, the exercise stress test will lack this specific rhythm.  FAMILION can help your doctor confirm this diagnosis for you and your family members, including those who may not show any symptoms of the disease.

Treatment of CPVT

• Medication prescribed by your doctor may help control your heart beat. It is very important that you take your medication as directed, and never stop taking a medication without talking to your doctor first.

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