Genetic Testing and Counseling

Genetic testing and genetic counseling can be valuable tools when evaluating patients, and their family members, for channelopathies (Long QT Syndrome, CPVT, Brugada). The genetic changes that cause some channelopathies may even guide your cardiologist or electrophysiologist (cardiologist who specializes in heart rhythm conditions) to choose one specific medication.  If a known disease-causing genetic mutation (change in the gene’s sequence or pattern) is found in a patient, it can help direct future testing in other family members to determine their risk of developing the disease.

While genetic testing is valuable in both diagnosis and prognosis, it has limitations as well. Sometimes, a genetic change may be found that has not been shown to be disease-causing, but also has not been found to be harmless. In addition, a genetic defect may be present but it is not able to be detected with current testing. Genetic testing is expensive, especially during the initial evaluation, because many genes may need to be tested. These costs may or may not be covered by a patient’s medical insurance. Finally, testing may take weeks to months to complete, and this waiting period can be very stressful for patients and their families.
 
The decision about whether or not to do genetic testing is best made after thoughtful discussion with your healthcare team.

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Heart Rhythm Disorders
Millions of people experience irregular or abnormal heartbeats, called arrhythmias, at some point in their lives. Most of the time, they are harmless and happen in healthy people free of heart disease. However, some abnormal heart rhythms can be serious or even deadly. Having other types of heart disease can also increase the risk of arrhythmias.
Pediatrics and Congenital Heart Disease (CHD)
This section is for pediatric patients and families living with heart rhythm disorders and heart rhythm disorders related to congenital heart disease (CHD).
Early Warning Signs
If you are experiencing a racing, pounding, rumbling or flopping feeling in your chest or if you have been fainting, having repeated dizzy spells, feeling lightheaded or you are extremely fatigued, it's time to see a doctor to discuss your heart health.
Common Treatments
Learning about the underlying cause of any heart rhythm disorder provides the basis for selecting the best treatment plan. Information and knowledge about care options, and their risks and benefits help you work with your health care provider to make the best choices.
Lifestyle
Since other heart disorders increase the risk of developing abnormal heart rhythms, lifestyle changes often are recommended. Living a “heart healthy” lifestyle can ease the symptoms experienced with heart rhythm disorders and other heart disorders, and can be beneficial to overall patient health.
The Normal Heart
The heart is a fist-sized muscle that pumps blood through the body 24 hours a day, 365 days a year, without rest. The normal heart is made up of four parts: two atria on the top of the heart (right atrium and left atrium), and two ventricles (right ventricle and left ventricle) which are the muscular chambers on the bottom of the heart that provide the major power to pump blood.