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Circulation: Arrhythmia and Electrophysiology
Previously unsuspected inherited arrhythmia syndromes are potential causes of sudden unexpected death. In this prospective registry, systematic screening of first degree family members revealed cardiac abnormalities likely related to arrhythmia risk in 30%. These findings support a systematic approach to screening families who have experienced a sudden unexpected death of unknown cause.
Cardiac Abnormalities in First Degree Relatives of Unexplained Cardiac Arrest Victims
A Report from the CASPER Registry
Christian Steinberg, MD Gareth J. Padfield, MBChB, PhD Jean Champagne, MD Shubhayan Sanatani, MD Paul Angaran, MD Jason G. Andrade, MD Jason D. Roberts, MD, MAS Jeffrey S. Healey, MD, MSc Vijay S. Chauhan, MD David H. Birnie, MBChB, MD Mikyla Janzen, BScH Brenda Gerull, MD George J. Klein, MD Richard Leather, MD Christopher S. Simpson, MD Colette Seifer, MD Mario Talajic, MD Martin Gardner, MD Andrew D. Krahn, MD
Correspondence to: Dr Andrew Krahn, Heart Rhythm Vancouver, 211–1033 Davie Street, Vancouver, BC V6E 1M7. E-mail firstname.lastname@example.org
BACKGROUND: Unexplained cardiac arrest (UCA) may be explained by inherited arrhythmia syndromes. The CASPER registry prospectively assessed first-degree relatives of UCA or sudden unexplained death (SUD) victims to screen for cardiac abnormalities.
METHODS AND RESULTS: 398 first-degree family members (186 UCA, 212 SUD relatives; mean age 44±17 years) underwent extensive cardiac workup including ECG, SAECG, exercise testing, cardiac imaging, Holter-monitoring and selective provocative drug testing with epinephrine or procainamide. Genetic testing was performed when a mutation was identified in the UCA survivor or when the diagnostic workup revealed a phenotype suggestive of a specific inherited arrhythmia syndrome. The diagnostic strength was classified as definite, probable or possible based on previously published definitions. Cardiac abnormalities were detected in 120/398 patients (30.2%) with 67/398 having a definite or probable diagnosis (17%) including long-QT Syndrome (13%), CPVT (4%), ARVC (4%) and Brugada syndrome (3%). The detection yield was similar for family members of UCA and SUD victims (31% versus 27%; P=0.59). Genetic testing …