Udskriv Udskriv
Switch language
Rigshospitalet - en del af Københavns Universitetshospital

Diagnostic yield in victims of sudden cardiac death and their relatives

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review


  1. Antibody-dependent neutralizing capacity of the SARS-CoV-2 vaccine BNT162b2 with and without previous COVID-19 priming

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  2. Risk Factors for Being Seronegative following SARS-CoV-2 Infection in a Large Cohort of Health Care Workers in Denmark

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  3. Hjertestop hos en patient med langt QT-syndrom i androgendeprivationsterapi

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  4. Functional Effects of Receptor-Binding Domain Mutations of SARS-CoV-2 B.1.351 and P.1 Variants

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

Vis graf over relationer

AIMS: International guidelines recommend cardiogenetic screening in families with sudden cardiac death (SCD) if the suspected cause is an inherited cardiac disease. The aim was to assess the diagnostic yield of inherited cardiac diseases in consecutively referred SCD families.

METHODS AND RESULTS: In this single-centre retrospective study, we consecutively included families referred to our tertiary unit between 2005 and 2018 for screening due to SCD. Following evaluation of premortem medical records and postmortem findings for the proband, the families underwent a guideline-based screening protocol. Relatives were followed and cardiovascular events registered. In total, 304 families with 695 relatives were included. In probands, mean age at death was 39 years (75% males) and in relatives mean age at screening was 35 years (47% males). The proband-diagnosis was established through autopsy findings (n = 89), genetic analyses (n = 7), or based on premortem findings (n = 21). In the remaining 187 families with borderline/no diagnosis in the proband, screening of relatives yielded a diagnosis in 26 additional families. In total, an inherited cardiac disease was identified in 143 out of 304 families (47%). In relatives, 73 (11%) were diagnosed. Arrhythmogenic right ventricular cardiomyopathy (n = 16) was the most common diagnosis. During follow-up (mean 5.5 years), a low rate of serious cardiac events was observed (no SCD events).

CONCLUSION: Forty-seven percent of SCD families were diagnosed. Eleven percent of the screened relatives received a definite diagnosis and were offered treatment according to guidelines. A low rate of serious cardiovascular events was observed among SCD relatives.

TidsskriftEuropace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology
Udgave nummer6
Sider (fra-til)964-971
Antal sider8
StatusUdgivet - 1 jun. 2020

Bibliografisk note

Published on behalf of the European Society of Cardiology. All rights reserved. © The Author(s) 2020. For permissions, please email:

ID: 62033224