In a properly functioning cardiovascular system, certain proteins operate ion channels, which control the flow of sodium, potassium, and calcium through the heart’s cells. These molecules are essential in the regulating the heart’s electrical activity.
CPVT is an inherited genetic condition that mutates these proteins, which disrupts this flow and the heart’s electrical activity, leading to arrhythmia during physical activity or emotional stress.
These ventricular arrhythmias may return to a normal heartbeat on their own. But sometimes, arrhythmias can worsen into a more dangerous heart arrhythmia called ventricular fibrillation. Without immediate medical treatment, this problem can lead to sudden cardiac death, especially in children and young athletes who are otherwise healthy.
CPVT usually starts in childhood, but may go undetected. The first sign of the disease may be sudden cardiac death. Signs and symptoms usually occur during physical activity or emotional stress and include:
- Light-headedness, dizziness or fainting
- Heart palpitations (fluttering or pounding in your chest)
- Sudden cardiac arrest (heart stoppage because of arrhythmias caused by electrical problems) or death
Diagnosis and Treatment
A standard electrocardiogram (ECG) generally will not detect CPVT. If your physician suspects the disease based on family history or symptoms, you will need further testing. Some diagnostic tools we use at MedStar Heart & Vascular Institute include:
- Exercise ECG (or stress test) to detect heart arrhythmia that may not appear on a standard ECG
- Event monitor to record your heart’s electrical activity over time to detect heart arrhythmia
- Diagnostic imaging, including cardiovascular MRI and echocardiogram, to evaluate your heart’s structure for any other abnormalities
- Genetic testing to look for defective genes associated with CPVT
If your physician diagnoses you or a family member with CPVT, screening for other family members is very important. We offer genetic screening for heart conditions.
At MedStar Heart & Vascular Institute, our cardiac specialists work to reduce the risks of dangerous heart arrhythmia and sudden cardiac arrest. Among the treatment options we offer are:
- Medications such as beta blockers or anti-arrhythmic drugs to help regulate heart contractions
- Surgery to implant a defibrillator to correct dangerous heart arrhythmia with electric shocks
- Lifestyle changes including avoiding very strenuous activity