Catecholaminergic polymorphic ventricular tachycardia
What are the main symptoms of catecholaminergic polymorphic ventricular tachycardia?
The main symptoms of catecholaminergic polymorphic ventricular tachycardia (CPVT) are caused by an electrical instability in the heart that is worsened with exercise or emotional situations. Syncope (fainting) is most commonly seen in individuals with CPVT due to ventricular tachycardia. Ventricular tachycardia (VT) is an irregularly fast or racing heartbeat. VT can be seen as bidirectional or polymorphic, which describes how the pattern of readings look on an electrocardiogram.
Lightheadedness and dizziness are also frequently seen in individuals with this condition. On average, symptoms are seen between the ages of seven to twelve, however may also not present until the 30's or 40's. In rare cases, an individual may have a mutation in any of the 4 genes associated with CPVT but are asymptomatic.
If CPVT is untreated, ventricular tachycardia may trigger cardiac arrest and can lead to sudden death. Of affected individuals, an estimated 30% experience at least one cardiac arrest and up to 80% have experienced fainting spells. Sudden death may manifest as the first indication in previously asymptomatic individuals. A family history of sudden death under 40 years old have been seen in about 30% of individuals diagnosed with CPVT.
For more information please consult with a genetic counselor. To find a genetic counselor in the United States, please visit the Find a Genetic Counselor page on the National Society of Genetic Counselors website.
Genetics Home Reference. (Reviewed December 2009). Catecholaminergic polymorphic ventricular tachycardia. Retrieved from https://ghr.nlm.nih.gov/condition/catecholaminergic-polymorphic-ventricular-tachycardia#.
Napolitano, C., Priori, S. G., Bloise, R. (2016). Catecholaminergic polymorphic ventricular tachycardia. Gene Reviews. Retrieved from https://www.ncbi.nlm.nih.gov/books/NBK1289/.