CASQ2-related CPVT is a rare, inherited cardiac disease caused by mutations in the CASQ2 gene. CASQ2 encodes a protein called calsequestrin 2, which maintains proper calcium homeostasis and which is required for normal heart rhythm. CPVT is characterized by abnormal ventricular arrhythmias that can cause dizziness and fainting and that can also progress to cardiac arrest and sudden death. These arrhythmias are precipitated by exercise or stress, which place considerable limitations on activities of daily living, and introduce ongoing anxiety about the risk of an arrhythmia into the lives of patients and their caregivers. If suspected by the treating physician, CPVT can be diagnosed via a cardiac stress test (electrocardiogram or ECG) with confirmation through genetic testing. It is estimated that more than 6,000 people globally have CPVT caused by a mutation in CASQ2 and there are currently no approved treatments. There are additional types of CPVT caused by other gene mutations.
For more information about the symptoms of CPVT, please visit our CASQ2-Catecholaminergic Polymorphic Ventricular Tachycardia symptoms page.
For additional information on CASQ2-CPVT, please refer to the following resources:
The following websites offer additional information and support for individuals and families living with CPVT: