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. 2021 Aug;44(8):1347-1354.
doi: 10.1111/pace.14294. Epub 2021 Jun 27.

Non-ischemic sudden cardiac arrest: Role of 12 lead Holter, family screening and genetic testing

Miry Blich  1   2 , Hodaya Oron  1 , Wisam Darawsha  2 , Mahmoud Suleiman  2 , Lorber Avraham  3 , Kchoury Asaad  3 , Monther Boulos  2 , Lior Gepstein  2
Affiliations

Non-ischemic sudden cardiac arrest: Role of 12 lead Holter, family screening and genetic testing

Miry Blich et al. Pacing Clin Electrophysiol. 2021 Aug.

Abstract

Objective and background: To evaluate the diagnostic and prognostic yield of a comprehensive protocol involving clinical and broad genetic testing in consecutive sudden cardiac arrest (SCA) population. Determining the pathogenesis of non-ischemic SCA is crucial for management and SCA prevention in other family members METHODS: Families with unexplained non-ischemic SCA event underwent rigorous clinical and genetic protocol after referral to our inherited arrhythmia clinic, during 2011-2017.

Results: One hundred and four index cases, 29 ± 16 years, and 421 family members were studied. After a thorough evaluation, diagnosis was made in 80 (77%) of families. The most prevalent 47/104 (45%) diagnosis was inherited channelopathy. The genetic test was positive, in 37 /69 (54%) of patients. Using the Mann Whitney test, we found that electrocardiography (ECG) (effect size 0.5, p < .001), 12 lead Holter (effect size 0.33, p = .001) and family screening (effect size 0.4, p = .001) had the highest yield in reaching the final diagnosis. Family screening, genetic testing, and cardiac MRI were the exclusive modalities for final diagnosis in 14%, 9%, and 2% of families, respectively. Among 421 family members evaluated through cascade screening, 127 (30%), were diagnosed and medically treated. Nine family members from 25 (40%) patients who underwent implantable cardioverter defibrillator (ICD) implantation have experienced appropriate ICD shock.

Conclusions: A rigorous, systematic protocol in a specialized inherited arrhythmia clinic has a high diagnostic and prognostic yield. ECG, 12 lead Holter and family screening significantly increased the diagnostic yield. In nine families, without genetic testing, the diagnosis would have been missed.

Keywords: 12 lead Holter; sudden cardiac arrest.

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References

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