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)

Brugada Syndrome (BrS)
BrS causes abnormal electrical activity in the heart. The most common symptom is fainting, but not all people with Brugada Syndrome have symptoms. It is seen in both men and women, but it is more common in men.

Causes of Brugada Syndrome
BrS is caused by abnormal ion channels in the heart. This can cause a fast, disorganized beating of the heart called “ventricular fibrillation.” Ventricular fibrillation interferes with blood flow to the body, and if not corrected, it can result in death. BrS is hereditary, so it’s important for both you and your family members to get tested.

Diagnosis of Brugada Syndrome
Your doctor may suspect that you have BrS based on your symptoms and specific abnormal findings in your ECG. He or she may recommend that you undergo a “provocative test,” which involves taking a drug to produce the typical ECG findings. FAMILION can also help your doctor confirm this diagnosis for you and your family members.

Treatment of Brugada Syndrome
There is no specific medication for BrS. Your doctor may advise surgical insertion of a defibrillator, which will reset the heart if ventricular fibrillation occurs. Your doctor may also prescribe medication.

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