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1 Sudden Arrhythmic Death Syndrome (sads): Diagnostic Yield of Comprehensive Clinical Evaluation of Paediatric First-degree Relatives
  1. Adriani Spanaki1,
  2. Valentina Giudici2,
  3. Val Jennifer Hendry1,
  4. Sarah Mead-Regan1,
  5. Ella Field1,
  6. Rory Bryant1,
  7. Jessica Ralph1,
  8. Dominic Abrahms3,
  9. Martin Lowe1,
  10. Juan Pablo Kaski1
  1. 1Inherited Cardiovascular Diseases Unit, UCLH
  2. 2Ospedale Luigi Sacco, University of Milan
  3. 3Department of Cardiology, Boston Children’s Hospital

Abstract

Background Sudden arrhythmic death syndrome (SADS) is most often caused by heritable cardiac diseases. Studies in adults have identified evidence of inherited cardiovascular diseases in up to 53% of families, but data on the prevalence of familial disease in children are scarce. The aim of this study was to evaluate the yield of clinical screening in paediatric first-degree relatives of victims of SADS or aborted cardiac arrest (ACA) using a systematic and comprehensive protocol.

Methods All consecutive paediatric patients referred for family screening between 2003 and 2013 after a SCD or ACA of a family member were retrospectively enrolled into the study. Systematic evaluation of the children included clinical examination, family history, ECG, echocardiogram, 24-hour tape and signal averaged ECG. Older patients also underwent exercise testing, cardiac MRI and ajmaline provocation testing.

Results A total of 110 children from 63 consecutive families were included in the study. An inherited cardiac disease was identified in 12 1st-degree children from 11 (17.5%) families (7 children were diagnosed with Brugada syndrome, 2 with long QT syndrome, 1 with CPVT, and 2 had late potentials on signal averaged ECGs).

Conclusions These data show a high prevalence of inherited heart disease in paediatric first-degree relative in families with a history of SCD or ACA. The results highlight the importance of a systematic, comprehensive approach and ongoing screening of paediatric family members.

  • sudden arrhythmic death syndrome
  • family screening
  • children

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