An observational study in Cardiac Arrest, Long QT Syndrome and Brugada Syndrome, sponsored by University of British Columbia. Completed at 1 site in Canada. Open to participants aged 2 Years and older. Per ClinicalTrials.gov, last updated 2020-11-16.
Sponsored by University of British Columbia · Observational
The CASPER will collect systematic clinical assessments of patients and families within the multicenter Canadian Inherited Heart Rhythm Research Network. Unexplained Cardiac Arrest patients and family members will undergo standardized testing for evidence of primary electrical disease and latent cardiomyopathy along with clinical genetics screening of affected individuals based on an evident or unmasked phenotype.
Arrhythmias caused by congenital or acquired abnormalities of cardiac K+ or Na+ channels are increasingly recognized as a cause of syncope and sudden death. Cardiac arrest in the absence of overt structural heart disease was previously considered idiopathic ventricular fibrillation (IVF). The list of causes of "unexplained" cardiac arrest (UCA) now encompasses K+ related abnormalities (Long and Short QT, Andersen's), Na+ related (Long QT3, Brugada), Ca++ related (Catecholaminergic Polymorphic Ventricular Tachycardia-CPVT), and latent cardiomyopathy. These underlying causes of cardiac arrest are overtly familial in 30-60% of cases. Clinical detection of the underlying phenotype is crucial to direct appropriate treatment, genetic testing and screening of family members.
Phenotype recognition of the range of these rare genetic conditions includes non-invasive and invasive testing to demonstrate the hallmarks of each individual condition, and exclude common causes such as ischemic or idiopathic forms of cardiomyopathy. The outcomes from this type of testing have not been assessed in a systematic fashion in patients with UCA or their family members. Phenotype-genotype correlation is necessary to develop optimal diagnostic testing in probands and screening techniques in their family members, which will result in disease-specific therapy. Genetic testing of patients with an overt phenotype demonstrates a potentially causative mutation in 50-75% of LQTS patients, and 20% of Brugada's Syndrome patients. Despite recognized mutations with phenotypic expression models, 30-80% of patients will have negative gene screening despite overt or latent clinical disease.
The proposed project is evaluating a systematic approach to clinical assessment and genetic screening of patients and families with UCA and suspected inherited arrhythmias involving:
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Unexplained cardiac arrest patients, and first degree relatives of 1) UCA patients 2) patients with known primary electrical disease or 3) unexplained sudden death before age 60
Exclusion Criteria:
Probands - Unexplained Cardiac Arrest Survivors and Post Mortem Unexplained Cardiac Arrest Cases
First Degree Family Members of those affected by Sudden Unexplained Cardiac Arrest
Developing and Testing Algorithms for Diagnostics and Treatments in Survivors of Unexplained Cardiac Arrest
Long Term follow up data on survivors of cardiac arrest Long term monitoring of high risk patients and familymembers with an Injectable Cardiac Monitor 24 hour holter monitoring during provocative testing with epinephrine infusion and ambulatory activities to detect subclinical repolarization
Time frame: 25 years
Plan to share: No
This study is completed, as verified in Nov 2020. You cannot join it, but the record below documents what was studied.
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University of British Columbia