Abstract
BACKGROUND AND OBJECTIVES: Clinical evaluation of first-degree relatives of sudden death in the young (SDY) victims is recommended but reports of familial evaluation after SDY in population-based studies are limited. The SDY Case Registry is a prospective registry of sudden deaths in infants and children from multiple United States jurisdictions. Our objective was to describe familial evaluation after sudden death in this cohort. METHODS: Family members of the SDY Case Registry were invited to participate in the family substudy. Consented participants entered information about the decedent and personal medical history into an electronic database. First-degree relatives of noninfant SDY cases were informed of published recommendations for clinical evaluation and were provided with contact information for local inherited heart disease clinics. Saliva kits were mailed to participants for DNA sample collection. RESULTS: In total, 82 relatives of 44 SDY Registry cases (26 infants, 17 children, 1 unknown age) enrolled in the study. A copy of the medical examiner's report was obtained from 20 (45%) cases. At the time of contact, only 26% were planning to see a physician because of the sudden death of the relative. A total of 62 (76%) participants provided DNA samples, but clinical records were uploaded by only 6 (14%) families. No new diagnoses of inherited diseases were identified with family screening. CONCLUSIONS: In a population-based registry of SDY, we found rare uptake of family evaluation, despite published recommendations. Educating families, primary care providers, and medical examiners is needed, including training of personnel who can help families navigate this process.
| Original language | English (US) |
|---|---|
| Article number | e2021054432 |
| Journal | Pediatrics |
| Volume | 149 |
| Issue number | 4 |
| DOIs | |
| State | Published - Apr 2022 |
Funding
FUNDING: This work was supported in part by the National Institutes of Health grants: U01HL131911, U01HL131698 and U01HL131914. The contents of this article are the responsibility of the authors and do not represent official views of the National Heart, Lung, and Blood Institute or the National Institutes of Health. Funded by the National Institutes of Health (NIH). CONFLICT OF INTEREST DISCLOSURES: The authors have indicated they have no financial relationships relevant to this article to disclose.
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health