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CARDIAC ABNORMALITIES IN RELATIVES OF SUDDEN CARDIAC ARREST VICTIMS: A REPORT FROM THE CASPER REGISTRY
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population is 0.92/100,000 per year (or 1/109,067). The incidence of competitive sport related cardiac arrest in the total population is 0.083/100,000 per year (or 1/1,205,582). CONCLUSION: Pre-participation screening for competitive athletes, even if 100% sensitive, could have potentially identified 3 persons at risk for non-coronary related cardiac arrest, out of about 300,000 persons at risk. Screening all competitive young athletes is likely to be extremely inefficient at preventing organized sport related sudden deaths.
Canadian Journal of Cardiology Volume 31 2015
common pathogenic mutations were RyR2 (2.3%), SCN5A (1%) and KNCQ1 (0.8%). The yield of genetic testing was similar for family members of UCA survivors or SUD victims. CONCLUSION: Detailed cardiac screening revealed cardiac abnormalities in almost a third of first-degree relatives of UCA survivors or SUD victims. Long QT, ARVC and CPVT were the most common diagnoses. Systematic cascade screening and genetic testing in asymptomatic individuals will lead to preventive lifestyle and/or medical interventions with potential to prevent sudden cardiac death.
224 CARDIAC ABNORMALITIES IN RELATIVES OF SUDDEN CARDIAC ARREST VICTIMS: A REPORT FROM THE CASPER REGISTRY C Steinberg, GJ Padfield, C Christopher, J Champagne, S Sanatani, P Angaran, S Chakrabarti, JS Healey, VS Chauhan, DH Birnie, M Janzen, B Gerull, R Yee, R Leather, MH Gollob, CS Simpson, M Talajic, M Gardner, AD Krahn Vancouver, British Columbia BACKGROUND:
Unexplained cardiac arrest (UCA) may be explained by an inherited arrhythmia syndrome, placing family members at risk. The CASPER (Cardiac Arrest Survivors with Preserved Ejection Fraction Registry) registry prospectively assessed first-degree family members of UCA survivors or victims of sudden unexplained death (SUD) to screen for cardiac abnormalities. METHODS: A total of 398 first-degree family members (217 females, age 4417 years) underwent extensive cardiac workup including ECG, signal averaged ECG, exercise testing, cardiac imaging, Holter monitoring and selective provocative drug testing with epinephrine or procainamide. Genetic testing was performed when a mutation had been identified in the UCA survivor or when the diagnostic workup revealed a phenotype suggestive of a specific inherited arrhythmia. The diagnostic strength was classified as definite, probable or possible based on previously published definitions. RESULTS: Cardiac abnormalities were detected in 117/398 patients (29.4%) with 56/117 (47.8%) having a definite or probable diagnosis. The most common abnormality was Long QT Syndrome (13.3%, Figure 1), ARVC and CPVT (3.5% each) and Brugada syndrome (2.8%). Detection yield was similar for family members of UCA survivors or SUD victims (31.2% vs. 27.8%; p¼0.53). Genetic testing was performed more often in family members of UCA patients (29% vs. 19.8%; p¼0.03). Disease-causing mutations were identified in 20/398 relatives (5%) with cardiac abnormalities. The most
225 INFLUENCE OF ASSIGNING A DIAGNOSIS ON ARRHYTHMIA RECURRENCE IN APPARENTLY UNEXPLAINED CARDIAC ARREST PATIENTS (CASPER) AR Herman, C Cheung, M Janzen, MT Bennett, S Chakrabarti, K Gibbs, JS Healey, VS Chauhan, DH Birnie, J Champagne, S Sanatani, P Angaran, RM Gow, B Gerull, R Leather, GJ Klein, MH Gollob, M Talajic, CS Simpson, M Gardner, AD Krahn Vancouver, British Columbia BACKGROUND:
The Cardiac Arrest Survivors with Preserved Ejection Fraction (CASPER) enrolls patients with apparently unexplained cardiac arrest and no evident cardiac disease, and aims to identify the underlying conditions responsible for the cardiac arrest through systematic clinical testing. A combination of exercise testing, drug provocation, electrophysiological testing, advanced cardiac imaging, and targeted genetic testing can unmask the cause of cardiac arrest when a cause is not apparent. METHOD: Patients with a previous UCA from 14 sites across Canada were prospectively enrolled. Patients were free of evidence of coronary artery disease, left ventricular dysfunction or evident repolarization syndromes. ICD events, including appropriate shocks and anti-tachycardia pacing (ATP), were compared between diagnosed and undiagnosed patients. Time to first event was calculated using a Cox regression model. RESULTS: The first 200 survivors of unexplained cardiac arrest were evaluated to determine the results of investigation and follow-up risk of recurrence (age 48.6 14.7 years, 41% female). Advanced testing determined a probable or definite diagnosis in 41% of patients. Of those that received a diagnosis, 28 (35%) had an underlying structural condition, and
population is 0.92/100,000 per year (or 1/109,067). The incidence of competitive sport related cardiac arrest in the total population is 0.083/100,000 per year (or 1/1,205,582). CONCLUSION: Pre-participation screening for competitive athletes, even if 100% sensitive, could have potentially identified 3 persons at risk for non-coronary related cardiac arrest, out of about 300,000 persons at risk. Screening all competitive young athletes is likely to be extremely inefficient at preventing organized sport related sudden deaths.
Canadian Journal of Cardiology Volume 31 2015
common pathogenic mutations were RyR2 (2.3%), SCN5A (1%) and KNCQ1 (0.8%). The yield of genetic testing was similar for family members of UCA survivors or SUD victims. CONCLUSION: Detailed cardiac screening revealed cardiac abnormalities in almost a third of first-degree relatives of UCA survivors or SUD victims. Long QT, ARVC and CPVT were the most common diagnoses. Systematic cascade screening and genetic testing in asymptomatic individuals will lead to preventive lifestyle and/or medical interventions with potential to prevent sudden cardiac death.
224 CARDIAC ABNORMALITIES IN RELATIVES OF SUDDEN CARDIAC ARREST VICTIMS: A REPORT FROM THE CASPER REGISTRY C Steinberg, GJ Padfield, C Christopher, J Champagne, S Sanatani, P Angaran, S Chakrabarti, JS Healey, VS Chauhan, DH Birnie, M Janzen, B Gerull, R Yee, R Leather, MH Gollob, CS Simpson, M Talajic, M Gardner, AD Krahn Vancouver, British Columbia BACKGROUND:
Unexplained cardiac arrest (UCA) may be explained by an inherited arrhythmia syndrome, placing family members at risk. The CASPER (Cardiac Arrest Survivors with Preserved Ejection Fraction Registry) registry prospectively assessed first-degree family members of UCA survivors or victims of sudden unexplained death (SUD) to screen for cardiac abnormalities. METHODS: A total of 398 first-degree family members (217 females, age 4417 years) underwent extensive cardiac workup including ECG, signal averaged ECG, exercise testing, cardiac imaging, Holter monitoring and selective provocative drug testing with epinephrine or procainamide. Genetic testing was performed when a mutation had been identified in the UCA survivor or when the diagnostic workup revealed a phenotype suggestive of a specific inherited arrhythmia. The diagnostic strength was classified as definite, probable or possible based on previously published definitions. RESULTS: Cardiac abnormalities were detected in 117/398 patients (29.4%) with 56/117 (47.8%) having a definite or probable diagnosis. The most common abnormality was Long QT Syndrome (13.3%, Figure 1), ARVC and CPVT (3.5% each) and Brugada syndrome (2.8%). Detection yield was similar for family members of UCA survivors or SUD victims (31.2% vs. 27.8%; p¼0.53). Genetic testing was performed more often in family members of UCA patients (29% vs. 19.8%; p¼0.03). Disease-causing mutations were identified in 20/398 relatives (5%) with cardiac abnormalities. The most
225 INFLUENCE OF ASSIGNING A DIAGNOSIS ON ARRHYTHMIA RECURRENCE IN APPARENTLY UNEXPLAINED CARDIAC ARREST PATIENTS (CASPER) AR Herman, C Cheung, M Janzen, MT Bennett, S Chakrabarti, K Gibbs, JS Healey, VS Chauhan, DH Birnie, J Champagne, S Sanatani, P Angaran, RM Gow, B Gerull, R Leather, GJ Klein, MH Gollob, M Talajic, CS Simpson, M Gardner, AD Krahn Vancouver, British Columbia BACKGROUND:
The Cardiac Arrest Survivors with Preserved Ejection Fraction (CASPER) enrolls patients with apparently unexplained cardiac arrest and no evident cardiac disease, and aims to identify the underlying conditions responsible for the cardiac arrest through systematic clinical testing. A combination of exercise testing, drug provocation, electrophysiological testing, advanced cardiac imaging, and targeted genetic testing can unmask the cause of cardiac arrest when a cause is not apparent. METHOD: Patients with a previous UCA from 14 sites across Canada were prospectively enrolled. Patients were free of evidence of coronary artery disease, left ventricular dysfunction or evident repolarization syndromes. ICD events, including appropriate shocks and anti-tachycardia pacing (ATP), were compared between diagnosed and undiagnosed patients. Time to first event was calculated using a Cox regression model. RESULTS: The first 200 survivors of unexplained cardiac arrest were evaluated to determine the results of investigation and follow-up risk of recurrence (age 48.6 14.7 years, 41% female). Advanced testing determined a probable or definite diagnosis in 41% of patients. Of those that received a diagnosis, 28 (35%) had an underlying structural condition, and