A pathogenic result means that a DNA change (variant) was found in the KCNQ1 gene which causes disease (pathogenic). If a person has a specific change (variant) in a gene called KCNQ1, it is considered to be related to a disease called long QT syndrome (LQTS).
Your provider will first figure out how severe the condition is and what needs you have. The main goal of the care plan is to identify the people who are most at risk for heart-related issues.
2. Overt T-wave alternanas
3. Medical history
All people with symptoms of the condition should be treated. Treatment focuses on preventing syncope (fainting), cardiac arrest (heart stopping) and sudden death.
1. EKG Monitoring
2. Take Beta Blockers daily.
Beta blockers should be taken every day and have a plan in place in case of missed doses. Long-acting medicines (nadolol) should be used to make sure patients take their medicine correctly and should avoid short-acting medicines (metoprolol).
3. Implantable cardioverter-defibrillators (ICDs)
4. Left cardiac sympathetic denervation (LCSD)
5. Sodium channel blockers
1. Drugs that increase the time it takes for the heart to recharge between beats (QT interval) or cause a type of abnormal heart rhythm (torsade de pointes) should be avoided for people with Long QT Syndrome (LQTS). Ask your doctor about which drugs to avoid.
2. Epinephrine, a medication given with local anesthetics, can cause abnormal heart rhythms (arrhythmias) so it is best to not use it.
3. Electrolyte imbalances in the body can cause the QTc interval to become longer. It is important to identify and fix any electrolyte imbalances to prevent this from happening. Imbalances in the body can happen due to having diarrhea, throwing up (vomiting), medical conditions (metabolic conditions) or eating an unhealthy diet to try and lose weight (unbalanced diets for weight loss).
4. Vigorous exercise – especially swimming without someone watching – to stay safe. People should have their risk evaluated by a medical expert before participating in competitive sports.
5. Loud noises – recommended to reduce exposure to loud noises like alarm clocks and phone ringing.
6. Stress, anger or crying