Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a condition characterized by an abnormal heart rhythm (arrhythmia). As the heart rate increases in response to physical activity or emotional stress, it can trigger an abnormally fast heartbeat called ventricular tachycardia. Episodes of ventricular tachycardia can cause light-headedness, dizziness, and fainting (syncope). In people with CPVT, these episodes typically begin in childhood.
CPVT most commonly results from mutations in two genes, RYR2 and CASQ2. RYR2 gene mutations cause about half of all cases, while mutations in the CASQ2 gene account for up to 5 percent of cases. Mutations in other genes are rare causes of the condition.
The prevalence of CPVT is estimated to be about 1 in 10,000 people. However, the true prevalence of this condition is unknown.
When CPVT results from mutations in the RYR2 gene, it follows an autosomal dominant inheritance pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In about half of cases, an affected person inherits an RYR2 gene mutation from one affected parent. The remaining cases result from new (de novo) mutations in the RYR2 gene that occur during the formation of reproductive cells (eggs or sperm) in an affected individual's parent or in early embryonic development. These cases occur in people with no history of the disorder in their family.
Diana Domingo is in Valencia, Spain. Domingo is rated as an Elite expert by MediFind in the treatment of Catecholaminergic Polymorphic Ventricular Tachycardia. She is also highly rated in 2 other conditions, according to our data. Her top areas of expertise are Catecholaminergic Polymorphic Ventricular Tachycardia, Familial Ventricular Tachycardia, Long QT Syndrome 5, and Ventricular Tachycardia.
Andrew Rubin is a Cardiac Electrophysiologist and a Cardiologist in Rancho Mirage, California. Dr. Rubin has been practicing medicine for over 36 years and is rated as a Distinguished doctor by MediFind in the treatment of Catecholaminergic Polymorphic Ventricular Tachycardia. He is also highly rated in 66 other conditions, according to our data. His top areas of expertise are Atrial Fibrillation, Arrhythmias, Bidirectional Tachycardia, and Catecholaminergic Polymorphic Ventricular Tachycardia. He is licensed to treat patients in California.
Robert Kinn is a Cardiologist and a Cardiac Electrophysiologist in Shelbyville, Indiana. Dr. Kinn has been practicing medicine for over 37 years and is rated as a Distinguished doctor by MediFind in the treatment of Catecholaminergic Polymorphic Ventricular Tachycardia. He is also highly rated in 42 other conditions, according to our data. His top areas of expertise are Familial Progressive Cardiac Conduction Defect, Arrhythmias, Catecholaminergic Polymorphic Ventricular Tachycardia, and Bidirectional Tachycardia. He is licensed to treat patients in Indiana. Dr. Kinn is currently accepting new patients.
Published Date:updated Last, July
Published By: National Institutes of Health