Sudden unexplained death versus nonautopsied possible sudden cardiac death: Findings in relatives.

ABSTRACT

BACKGROUND: International guidelines recommend work-up of relatives to autopsy negative sudden cardiac death victims, denoted as sudden unexplained death (SUD) and nonautopsied possible sudden cardiac death (pSCD) victims. This study assesses and compare baseline characteristics and clinical outcome at initial evaluation and during follow-up of relatives to SUD and pSCD victims. METHODS: We retrospectively included data from systematic screening and routine follow-up of first-degree relatives to SUD and pSCD victims referred to our Unit for Inherited Cardiac Diseases, Copenhagen, 2005-2018. Victims with an antemortem known inherited cardiac disease were excluded. RESULTS: We included 371 first-degree relatives from 187 families (120 SUD, 67 pSCD) 276 SUD relatives (age 33 ± 18 years, 54% men) and 95 pSCD relatives (age 40 ± 15 years, 51% men). The diagnostic yields of inherited cardiac diseases in SUD and pSCD families were 16% and 13%, respectively (p = .8). The diagnoses in SUD families were mainly channelopathies (68%), whereas pSCD families were equally diagnosed with cardiomyopathies, channelopathies, and premature ischemic heart disease. Ninety-three percent of diagnosed families were diagnosed at initial evaluation and 7% during follow-up (5.4 ± 3.3 years). During follow-up 34% of relatives with a diagnosed inherited cardiac disease had an arrhythmic event, compared to 5% of relatives without established diagnosis (p < .0001). CONCLUSIONS: Channelopathies dominated in SUD families whereas a broader spectrum of inherited diseases was diagnosed in pSCD families. Most affected relatives were diagnosed at initial evaluation. The event rate was low in relatives without an established diagnosis. Long-term clinical follow-up may not be warranted in all relatives with normal baseline-findings.