Our journey is just beginning, we are well on our way learning to navigate the SADS lifestyle.
Our story begins in the fall of 2012 when our 12 year old (seemingly healthy) boy passed out while running laps at his kickboxing class. The initial EKG revealed some abnormalities and more tests were ordered. We were not prepared for the diagnosis we received after many tests, and visits with heart specialists. In the fall of 2014, it was confirmed our son has a genetic heart condition called CPVT (catecholaminergic polymorphic ventricular tachycardia).
What is CPVT?
Catecholaminergic polymorphic ventricular tachycardia or CPVT is a condition that results in ventricular rhythm problems (bidirectional and polymorphic ventricular tachycardia and ventricular fibrillation) that can cause fainting or sudden death. Events usually occur with exercise or during stress. CPVT is caused by abnormalities in the way the heart muscle cells handle calcium.What are the symptoms of CPVT?
- Fainting caused by ventricular tachycardia. This usually occurs during exercise or other activities that are associated with high adrenaline levels.
- Cardiac arrest if the ventricular tachycardia degenerates into ventricular fibrillation. Cardiac arrest may be the first symptom in CPVT patients.
What tests are used to diagnose CPVT?
- CPVT is diagnosed primarily by either treadmill stress testing to provoke rhythm abnormalities, or catecholamine provocation testing
- In children too young to perform exercise testing a 24-hour Holter monitor may help with the diagnosis. (In children with CPVT, the heart muscle function and the heart structure are normal). Note: a resting ECG that is usually normal in CPVT patients, and insufficient as a diagnostic tool.
- Genetic Testing
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