Diagnostic yield and long-term outcome of nonischemic sudden cardiac arrest survivors and their relatives: Results from a tertiary referral center

BACKGROUND: Cardiac arrest may be the first manifestation of most inherited cardiac diseases. International guidelines recommend screening of relatives of sudden cardiac arrest (SCA) survivors if an inherited cardiac disorder is suspected.

OBJECTIVE: The purpose of this study was to assess the prevalence and spectrum of inherited cardiac diseases and the long-term outcome in a consecutive cohort of nonischemic SCA survivors (probands) and their relatives.

METHODS: This retrospective study consecutively included probands and their relatives referred to our tertiary center for family screening between 2005 and 2018. All participants underwent a systematic workup and follow-up protocol. Data were retrieved from medical records.

RESULTS: We included 155 probands (age 41.2 ± 15.5 years; 61% male) and 282 relatives (age 35.7 ± 18.8 years; 51% male). Mean follow-up was 7.1 years for probands and 4.4 years for relatives. We identified an inherited cardiac disease in 76 (49%) probands and 42 (15%) relatives. An implantable cardioverter-defibrillator was inserted in 147 (95%) probands and 9 (3%) relatives. During follow-up, 4 (3%) probands and 3 (1%) relatives died, and 37 probands and 2 relatives received appropriate shock therapy. All relatives received genetic counseling, and 18 (6%) relatives started pharmacologic treatment during follow-up.

CONCLUSION: Systematic workup of nonischemic SCA survivors and their relatives identified an inherited cardiac disease in 49% of referred probands and 15% of their relatives. The favorable long-term prognosis of diagnosed relatives probably not only reflects lower age but also the effects of early diagnosis, treatment, and follow-up. These findings support systematic workup of SCA survivors and their relatives.