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American Heart Association

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Final ID: Sa3069

Diagnostic Yield in Relatives to Sudden Cardiac Death Patients – A 10-year Follow-Up Study

Abstract Body (Do not enter title and authors here): Introduction
International guidelines recommend cardiogenetic screening of relatives to sudden cardiac death (SCD) patients suspected of having an inherited cardiac disease. However, little is known about the long-term diagnostic yield and risk of cardiac events among relatives. This information is crucial for designing appropriate follow-up strategies for relatives.

Aims
To determine the 10-year diagnostic yield and frequency of clinical outcomes in referred families to patients with all cause-SCD.

Methods
In this retrospective single-center study, we included consecutively referred families to patients with all cause-SCD from 1 January 2005 until 1 October 2018. Upon referral, the cause of death in the SCD proband was assessed through autopsy reports, genetic testing, and premortem medical records. First-degree relatives were screened following a standard protocol, and diagnostic yields were assessed after five and 10 years of follow-up. Furthermore, cardiac events (i.e. death due to cardiac cause, SCD, aborted SCD, sustained ventricular tachycardia, appropriate implantable cardioverter defibrillator therapy) and relevant clinical outcomes in relatives were monitored.

Results
A total of 686 relatives (304 families) were included, and mean age at follow-up was 45 years (47% males). The relatives were followed for a mean of 10.9 years during which 22 patients were lost to follow up. Screening over five years led to 73 relatives (49 families) being diagnosed, resulting in a diagnostic yield of 11%. After 10-years of follow-up, 82 relatives (56 families) were diagnosed, increasing the overall diagnostic yield to 12% with arrhythmogenic right ventricular cardiomyopathy being the most prevalent diagnosis. A total of 11 relatives experienced a cardiac event during follow-up, of whom 10 had a definite diagnosis.

Conclusion
Over 10 years of follow-up, 82 (12%) relatives to patients with all cause-SCD were diagnosed with an inherited cardiac disease, primarily within the first five years. The majority of relatives who experienced a cardiac event during follow-up had a definite diagnosis. This underscores the importance of early detection and management of inherited cardiac diseases in the screening of SCD relatives.
  • Groenholdt, Christine  ( Rigshospitalet , Copenhagen , Denmark )
  • Hansen, Carolina  ( Rigshospitalet , Copenhagen , Denmark )
  • Hansen, Benjamin  ( Rigshospitalet , Copenhagen , Denmark )
  • Folke, Fredrik  ( Copenhagen EMS , Ballerup , Denmark )
  • Lauridsen, Trine  ( Copenhagen University Hospital , Herlev-Gentofte , Denmark )
  • Axelsson, Anna  ( Rigshospitalet , Copenhagen , Denmark )
  • Winkel, Bo  ( Rigshospitalet , Copenhagen , Denmark )
  • Bundgaard, Henning  ( Rigshospitalet , Copenhagen , Denmark )
  • Tfelt-hansen, Jacob  ( Rigshospitalet , Copenhagen , Denmark )
  • Christensen, Alex  ( Copenhagen University Hospital , Herlev-Gentofte , Denmark )
  • Author Disclosures:
    Christine Groenholdt: DO have relevant financial relationships ; Research Funding (PI or named investigator):Novo Nordisk Fonden:Active (exists now) | Carolina Hansen: No Answer | Benjamin Hansen: No Answer | Fredrik Folke: DO NOT have relevant financial relationships | Trine Lauridsen: No Answer | Anna Axelsson: DO NOT have relevant financial relationships | Bo Winkel: DO NOT have relevant financial relationships | Henning Bundgaard: DO NOT have relevant financial relationships | Jacob Tfelt-Hansen: DO have relevant financial relationships ; Consultant:Leo Pharma:Past (completed) ; Advisor:Cytokinetics:Active (exists now) ; Advisor:Boston Scientific:Active (exists now) ; Speaker:Johnson and Johnson:Past (completed) ; Speaker:Microprt:Past (completed) ; Advisor:Solid Bioscience:Active (exists now) | Alex Christensen: DO NOT have relevant financial relationships
Meeting Info:

Scientific Sessions 2024

2024

Chicago, Illinois

Session Info:

CVD Science Smorgasbord I

Saturday, 11/16/2024 , 10:30AM - 11:30AM

Abstract Poster Session

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