Diagnostic findings and follow-up outcomes in relatives to young non-autopsied sudden death victims

Abstract

BackgroundGuidelines recommend clinical assessment of relatives to young sudden cardiac death (SCD) victims in case the SCD was due to an inherited cardiac disorder. Work-up of relatives is guided by findings in the SCD victim. If post-mortem examinations have not been performed the work-up of relatives is challenged. MethodIn this retrospective study we included families referred to our tertiary referral centre between 2005 and 2018 due to a possible SCD (pSCD) in the family. Autopsy had not been performed in any of the pSCD victims. The relatives underwent cardiac work-up focusing on putative presence of inherited cardiac disorders and genetic analysis in selected cases. A family diagnosis was only established if≥1 relative was diagnosed. The families were categorised as: 1) definite inherited cardiac diagnosis, 2) borderline diagnosis, or 3) undiagnosed. ResultsWe assessed 149 relatives (43 ± 16 years, 48% men) from 84 pSCD non-autopsied cases (44 ± 11 years, 79% men). In 11 (13%) families a definite inherited cardiac diagnosis was established, a borderline diagnosis in 8 (10%) families, and 65 (77%) families remained undiagnosed. One third of the diagnosed relatives were offered pharmaco- or device-based therapy. During follow-up for 4.7 ± 3.6 years no relatives from the families with definite diagnoses died. No events were seen in the groups with borderline or no diagnoses. ConclusionThe diagnostic yield and need for treatment in diagnosed relatives warrant work-up, also of families with non-autopsied pSCD victims. No or reduced follow-up of relatives without signs or symptoms of heart diseases may be safe.