Author + information
- Received May 3, 2019
- Revision received May 25, 2019
- Accepted May 29, 2019
- Published online August 5, 2019.
- Gregory Webster, MD, MPHa,∗ (, )@LurieChildrens,
- Rachael Olson, BSa,
- Zachary J. Schoppen, BAa,
- Nicholas Giancola, BAa,
- Lauren C. Balmert, PhDb,
- Sara Cherny, MS, CGCa and
- Alfred L. George Jr., MDc
- aDivision of Cardiology, Ann and Robert H. Lurie Children’s Hospital of Chicago, Northwestern University Feinberg School of Medicine, Chicago, Illinois
- bDepartment of Preventive Medicine (Biostatistics), Northwestern University Feinberg School of Medicine, Chicago, Illinois
- cDepartment of Pharmacology, Northwestern University Feinberg School of Medicine, Chicago, Illinois
- ↵∗Address for correspondence:
Dr. Gregory Webster, Ann & Robert H. Lurie Children’s Hospital of Chicago, 225 East Chicago Avenue, Box 21, Chicago, Illinois 60611.
Background After sudden death occurs in the young, first-degree family members should undergo clinical screening for occult cardiac disease, but the diagnostic yield from screening is not well-defined in the United States.
Objectives The purpose of this study was to determine the clinical predictors of cardiac diagnosis in children referred for evaluation following a sudden death in the family.
Methods Patients referred for a family history of sudden death were evaluated in a retrospective review from a tertiary pediatric referral center.
Results Among 419 pediatric relatives of 256 decedents, 27% of patients were diagnosed with a disease or had a clinical finding of uncertain significance. Patients were diagnosed with heritable cardiac disease in 39 cases (9.3%). Nonheritable cardiac disease was diagnosed in another 5.5% of patients. Clinical findings of uncertain significance were present in 52 patients (12.4%), including abnormal electrophysiological test results (41 of 52) or imaging test results (11 of 52). Among patients diagnosed with a heritable cardiac disease, the nearest affected relative was almost always a first-degree relative (37 of 39, 95%). The strongest predictors for a successful diagnosis in the patient were an abnormal electrocardiogram and a first-degree relationship to the nearest affected relative (odds ratios: 24.2 and 18.8, respectively).
Conclusions Children referred for a family history of sudden death receive cardiac disease diagnoses (14%), but clinical findings of uncertain significance increase the challenge of clinical management. The importance of a diagnosis in first-degree affected relatives supports the clinical practice of testing intervening family members first when patients are second- or higher-degree relatives to the decedent.
Research reported in this publication was supported, in part, by the National Institutes of Health's National Center for Advancing Translational Sciences (grant number KL2TR001424), the National Institutes of Health, National Heart, Lung, and Blood Institute (grant numbers K23HL130554 and U01HL131914), the American Heart Association Mentored Clinical and Population Research Award, and the Smeds Family Foundation. REDCap access was provided by Northwestern University Clinical and Translational Sciences Institute, funded in part by the National Institutes of Health (UL1TR001422). Dr. George has served on the Scientific Advisory Boards of Amgen and Otsuka Pharmaceuticals; and has received research funding from Merck and Praxis Precision Medicines. All other authors have reported that they have no relationships relevant to the contents of this paper to disclose.
Listen to this manuscript's audio summary by Editor-in-Chief Dr. Valentin Fuster on JACC.org.
- Received May 3, 2019.
- Revision received May 25, 2019.
- Accepted May 29, 2019.
- 2019 American College of Cardiology Foundation
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