Cardiac ion channelopathies are genetic abnormalities in heart cell proteins that control heart electrical activity and thus can cause heart rhythm disturbances.
Most people who have cardiac ion channelopathies have no other heart disease, such as a heart attack or a heart valve disorder, but they carry mutations in the genes that determine the make-up or the regulation of heart membrane pores (channels) and are predisposed to heart rhythm abnormalities.
Types of channelopathies include
Symptoms may be triggered by fever or some drugs, including some antiarrhythmic drugs and some antidepressants.
Doctors consider a channelopathy in people who have family members who have a history of fainting or unexplained death due to a heart problem, especially if the death occurred at a young age.
Electrocardiography (ECG) is used to make the diagnosis. But sometimes the pattern of ECG abnormalities is less clear. In such cases, doctors may try to provoke the heart rhythm disturbance with a drug or with exercise, enabling doctors to make a diagnosis.
Usually, an implantable cardioverter-defibrillator (ICD), a small device that can detect an arrhythmia and deliver a shock to correct it, is used. This procedure is similar to the implantation of an artificial pacemaker.