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Arrhythmias and sudden death
Original research
Sudden cardiac death in families with premature cardiovascular disease
  1. Caroline Bruikman1,
  2. Maurice W J de Ronde1,2,
  3. Ahmed Amin3,
  4. Sonja Levy2,
  5. Pien Lof2,
  6. Ursula de Ruijter2,
  7. Kees Hovingh1,
  8. Hanno L Tan3,
  9. Sara-Joan Pinto-Sietsma1,2
  1. 1 Department of Vascular Medicine, Amsterdam UMC, Amsterdam, The Netherlands
  2. 2 Department of Clinical Epidemiology, Biostatistics and Bioinformatics, Amsterdam UMC, Amsterdam, The Netherlands
  3. 3 Department of Cardiology, Amsterdam UMC, Amsterdam, The Netherlands
  1. Correspondence to Dr Sara-Joan Pinto-Sietsma, Department of Vascular Medicine, Amsterdam UMC, Amsterdam 1105 AZ, The Netherlands; s.j.pinto{at}amc.uva.nl

Abstract

Objective Sudden cardiac death (SCD) in families with premature atherosclerosis (PAS) is generally attributed to lethal arrhythmias during myocardial infarction. Yet, such arrhythmias may also arise from non-ischaemic inherited susceptibility. We aimed to test the hypothesis that Brugada syndrome is prevalent among families with PAS in which SCD occurred.

Methods We investigated all patients who underwent Ajmaline testing to screen them for Brugada syndrome because of unexplained familial SCD in the Amsterdam University Medical Centers between 2004 and 2017. We divided the cohort into two groups based on a positive family history for PAS. All individuals with a positive Ajmaline test were screened for SCN5A-mutation.

Results In families with SCD and PAS, the prevalence of positive Ajmaline test was similar to families with SCD alone (22% vs 19%). The number of SCD cases in families with SCD and PAS was higher (2.34 vs 1.63, p<0.001) and SCD occurred at older age in families with SCD and PAS (42 years vs 36 years, p<0.001), while the prevalence of SCN5A mutations was lower (3% vs 18%, p<0.05).

Conclusions Brugada syndrome has a similar prevalence in families with SCD and PAS as in families with SCD alone, although SCD in families with SCD and PAS occurs in more family members and at older age, while SCN5A mutations in these families are rare. This suggests that the SCD occurring in families with PAS could be related to an underlying genetic predisposition of arrhythmias, with a different genetic origin. It could be considered to screen families with SCD and PAS for Brugada syndrome.

  • atherosclerosis
  • brugada syndrome
  • ajmaline
  • death
  • sudden
  • cardiac
http://creativecommons.org/licenses/by-nc/4.0/

This is an open access article distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited, appropriate credit is given, any changes made indicated, and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/.

https://doi.org/10.1136/heartjnl-2019-314861

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    Footnotes

    • Contributors CB and MR contributed equally to this paper. MR and SP conceptualised and designed the study. CB, MR, AA and SJ contributed to analysis and interpretation. CB, MR, AA, SL, PL, UR, HT and SP performed the data collection. CB, MR and SJ drafted the paper. KH, AA, HT and SP revised the work and final approved the manuscript.

    • Funding HLT has received funding from the European Union's Horizon 2020 research and innovation programme under acronym ESCAPE-NET, registered under grant agreement No 733381.

    • Competing interests All authors take responsibility for all aspects of the reliability and freedom from bias of the data presented and their discussed interpretation.

    • Patient consent for publication Not required.

    • Provenance and peer review Not commissioned; externally peer reviewed.

    • Data availability statement Data are available upon reasonable request.