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Authors
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Professor of Medicine and Cardiologist, Director of the Agnes Ginges Center for Molecular Cardiology at University of SydneyChristopher Semsarian, MBBS, PhD, MPH
Professor of Medicine and Cardiologist, Director of the Agnes Ginges Center for Molecular Cardiology at University of SydneyProfessor of Medicine and Cardiologist, Director of the Agnes Ginges Center for Molecular Cardiology at University of Sydney
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Senior Research Officer of the Molecular Cardiology Program at the Centenary Institute, Conjoint Senior Lecturer at Sydney Medical School at University of SydneyRichard Bagnall, PhD
Senior Research Officer of the Molecular Cardiology Program at the Centenary Institute, Conjoint Senior Lecturer at Sydney Medical School at University of SydneySenior Research Officer of the Molecular Cardiology Program at the Centenary Institute, Conjoint Senior Lecturer at Sydney Medical School at University of Sydney
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Experts
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Director, Robert’s Program on Sudden Unexpected Death in Pediatrics at Boston Children's HospitalRichard Goldstein, MD, FAAP
Director, Robert’s Program on Sudden Unexpected Death in Pediatrics at Boston Children's HospitalDirector, Robert’s Program on Sudden Unexpected Death in Pediatrics at Boston Children's Hospital
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Diagnostic Radiology Fellow at University Health NetworkMartin Arrigan, MB, BCh, BSc(Pharm), FRCPC, FFR(RCSI)
Diagnostic Radiology Fellow at University Health NetworkDiagnostic Radiology Fellow at University Health Network
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Chief, Heart Development and Structural Diseases Branch, National Heart, Lung, and Blood Institute; Adjunct Associate Professor of Pediatrics, Children's National Medical CenterJonathan Kaltman, MD
Chief, Heart Development and Structural Diseases Branch, National Heart, Lung, and Blood Institute; Adjunct Associate Professor of Pediatrics, Children's National Medical CenterChief, Heart Development and Structural Diseases Branch, National Heart, Lung, and Blood Institute; Adjunct Associate Professor of Pediatrics, Children's National Medical Center
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Deputy Director of Cardiology, Director of Non-Invasive Cardiac Imaging, and Head of the Heart Failure Clinic at St. Vincent's HospitalDavid Prior, MD, PhD
Deputy Director of Cardiology, Director of Non-Invasive Cardiac Imaging, and Head of the Heart Failure Clinic at St. Vincent's HospitalDeputy Director of Cardiology, Director of Non-Invasive Cardiac Imaging, and Head of the Heart Failure Clinic at St. Vincent's Hospital
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MD, PhD at University Hospital and Faculty of Medicine of Saint-EtienneJean-Claude Chatard, MD, PhD
MD, PhD at University Hospital and Faculty of Medicine of Saint-EtienneMD, PhD at University Hospital and Faculty of Medicine of Saint-Etienne
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Professor in the Department of Family Medicine and Community Health at University of Minnesota Medical SchoolWilliam Roberts, MD, MS, FACSM
Professor in the Department of Family Medicine and Community Health at University of Minnesota Medical SchoolProfessor in the Department of Family Medicine and Community Health at University of Minnesota Medical School
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Senior Staff Cardiologist at Royal Prince Alfred HospitalMark McGuire, MD
Senior Staff Cardiologist at Royal Prince Alfred HospitalSenior Staff Cardiologist at Royal Prince Alfred Hospital
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Professor of Cardiology and Head of Research for the Clinical and Academic group at St. George's UniversitySanjay Sharma, BSc (Hons), MD, FRCP (UK), FESC
Professor of Cardiology and Head of Research for the Clinical and Academic group at St. George's UniversityProfessor of Cardiology and Head of Research for the Clinical and Academic group at St. George's University
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Director, Cardiovascular Pathology Unit at University of Padua Medical SchoolGaetano Thiene, MD, FRCP
Director, Cardiovascular Pathology Unit at University of Padua Medical SchoolDirector, Cardiovascular Pathology Unit at University of Padua Medical School
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Director of the Inherited Arrhythmogenic Cardiomyopathy Unit at University of Padua Medical SchoolDomenico Corrado, MD, PhD, FESC
Director of the Inherited Arrhythmogenic Cardiomyopathy Unit at University of Padua Medical SchoolDirector of the Inherited Arrhythmogenic Cardiomyopathy Unit at University of Padua Medical School
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Genetic Cardiologist at Mayo Clinic, Windland Smith Rice Cardiovascular Genomics Research Professor, Professor of Medicine, Pediatrics, and Pharmacology, Director of Mayo Clinic's Genetic Heart Rhythm Clinic, President of the SADS FoundationMichael Ackerman, MD, PhD
Genetic Cardiologist at Mayo Clinic, Windland Smith Rice Cardiovascular Genomics Research Professor, Professor of Medicine, Pediatrics, and Pharmacology, Director of Mayo Clinic's Genetic Heart Rhythm Clinic, President of the SADS FoundationGenetic Cardiologist at Mayo Clinic, Windland Smith Rice Cardiovascular Genomics Research Professor, Professor of Medicine, Pediatrics, and Pharmacology, Director of Mayo Clinic's Genetic Heart Rhythm Clinic, President of the SADS Foundation
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Cardiologist at University Hospital Copenhagen, RigshospitaletBo Winkel, MD, PhD
Cardiologist at University Hospital Copenhagen, RigshospitaletCardiologist at University Hospital Copenhagen, Rigshospitalet
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Reader in Cardiovascular Medicine and Honorary Consultant Cardiologist at St. George's UniversityElijah Behr, MD
Reader in Cardiovascular Medicine and Honorary Consultant Cardiologist at St. George's UniversityReader in Cardiovascular Medicine and Honorary Consultant Cardiologist at St. George's University
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Cardiologist at St Vincent's Hospital and Baker IDIMaria Brosnan, MBBS, PhD, FRACP
Cardiologist at St Vincent's Hospital and Baker IDICardiologist at St Vincent's Hospital and Baker IDI
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Director, Office of Research Patient Care Services at Stanford Health CareDavid Pickham, PhD, RN, FAHA
Director, Office of Research Patient Care Services at Stanford Health CareDirector, Office of Research Patient Care Services at Stanford Health Care
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Moderators
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Attorney at Law; MD Candidate, Harvard Medical SchoolMatthew Young, Esq.
Attorney at Law; MD Candidate, Harvard Medical SchoolAttorney at Law; MD Candidate, Harvard Medical School
About the Discussion
@NEJM Ask the Authors & Experts: A Prospective, Population-Based Study of Sudden Cardiac Death in the Young
Original Article
A Prospective, Population-Based Study of Sudden Cardiac Death in the Young
Richard D. Bagnall, Ph.D., Robert G. Weintraub, M.B., B.S., Jodie Ingles, Grad.Dip.Gen.Couns., Ph.D., M.P.H., Johan Duflou, M.B., Ch.B.., M.Med., Laura Yeates, B.Sc., Grad.Dip.Gen.Couns., Lien Lam, Ph.D., Andrew Davis, M.B., B.S., M.D., Tina Thompson, B.Nurs, Vanessa Connell, Dip.App Sci., Jennie Wallace, R.N., Charles Naylor, M.A., M.B., B.Chir., Jackie Crawford, R.N., Donald R. Love, Ph.D., Lavinia Hallam, B.Sc., M.B., B.Ch., Jodi White, M.B., B.S., Christopher Lawrence, M.B., B.S., Matthew Lynch, L.L.B., M.B., B.S., Natalie Morgan, R.N., Grad.Dip.Genetic.Couns., Paul James, Ph.D., M.D., Desirée du Sart, Ph.D., Rajesh Puranik, M.B., Ph.D., Neil Langlois, M.B., B.Chir., M.A., M.D., Jitendra Vohra, M.D., Ingrid Winship, M.B., Ch.B., M.D., John Atherton, M.B., B.S., Ph.D, Julie McGaughran, M.B., Ch.B., M.D., Jonathan R. Skinner, M.B., Ch.B.., M.D., and Christopher Semsarian, M.B., B.S., Ph.D., M.P.H.
N Engl J Med | June 22, 2016 |DOI: 10.1056/NEJMoa1602002
BACKGROUND
Sudden cardiac death in the young is a devastating event. We performed a prospective, population-based, clinical and genetic study of sudden cardiac death in the young.
METHODS
We prospectively collected clinical, demographic and autopsy information on all sudden cardiac death cases aged 1-35 years in Australia and New Zealand from 2010 to 2012. In cases with no cause identified on conventional autopsy (sudden unexplained death), at least 59 cardiac genes were analysed.
RESULTS
Four hundred ninety sudden cardiac death cases were identified. The annual incidence was 1.3 per 100,000 persons aged 1-35 years. Seventy-two percent were male. The age group at highest risk for sudden cardiac death was 31-35 years (3.2 per 100,000) and for sudden unexplained death was 16-20 years (0.83 per 100,000). Coronary artery disease (24% of cases) and inherited cardiomyopathies (16%) were the most common explained causes of sudden cardiac death. Sudden unexplained death (40% of cases) was the predominant finding in all age sub-groups, except those 31-35 years where coronary artery disease was most common. Younger age and death at night were independently associated with sudden unexplained death compared to explained sudden cardiac death. A clinically relevant cardiac gene mutation was identified in 27% of cases of sudden unexplained death. A clinical diagnosis of an inherited cardiovascular disease was identified in 12% of families during follow-up.
CONCLUSIONS
Autopsy investigation combined with genetic testing substantially increased the likelihood of identifying a possible cause of death in young individuals with sudden cardiac death over autopsy investigation alone.
Originally Appeared in The New England Journal of Medicine on June 22, 2016.
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Authors
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Professor of Medicine and Cardiologist, Director of the Agnes Ginges Center for Molecular Cardiology at University of SydneyChristopher Semsarian, MBBS, PhD, MPH
Professor of Medicine and Cardiologist, Director of the Agnes Ginges Center for Molecular Cardiology at University of Sydney
Professor of Medicine and Cardiologist, Director of the Agnes Ginges Center for Molecular Cardiology at University of Sydney
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Senior Research Officer of the Molecular Cardiology Program at the Centenary Institute, Conjoint Senior Lecturer at Sydney Medical School at University of SydneyRichard Bagnall, PhD
Senior Research Officer of the Molecular Cardiology Program at the Centenary Institute, Conjoint Senior Lecturer at Sydney Medical School at University of Sydney
Senior Research Officer of the Molecular Cardiology Program at the Centenary Institute, Conjoint Senior Lecturer at Sydney Medical School at University of Sydney
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Experts
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Director, Robert’s Program on Sudden Unexpected Death in Pediatrics at Boston Children's HospitalRichard Goldstein, MD, FAAP
Director, Robert’s Program on Sudden Unexpected Death in Pediatrics at Boston Children's Hospital
Director, Robert’s Program on Sudden Unexpected Death in Pediatrics at Boston Children's Hospital
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Diagnostic Radiology Fellow at University Health NetworkMartin Arrigan, MB, BCh, BSc(Pharm), FRCPC, FFR(RCSI)
Diagnostic Radiology Fellow at University Health Network
Diagnostic Radiology Fellow at University Health Network
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Chief, Heart Development and Structural Diseases Branch, National Heart, Lung, and Blood Institute; Adjunct Associate Professor of Pediatrics, Children's National Medical CenterJonathan Kaltman, MD
Chief, Heart Development and Structural Diseases Branch, National Heart, Lung, and Blood Institute; Adjunct Associate Professor of Pediatrics, Children's National Medical Center
Chief, Heart Development and Structural Diseases Branch, National Heart, Lung, and Blood Institute; Adjunct Associate Professor of Pediatrics, Children's National Medical Center
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Deputy Director of Cardiology, Director of Non-Invasive Cardiac Imaging, and Head of the Heart Failure Clinic at St. Vincent's HospitalDavid Prior, MD, PhD
Deputy Director of Cardiology, Director of Non-Invasive Cardiac Imaging, and Head of the Heart Failure Clinic at St. Vincent's Hospital
Deputy Director of Cardiology, Director of Non-Invasive Cardiac Imaging, and Head of the Heart Failure Clinic at St. Vincent's Hospital
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MD, PhD at University Hospital and Faculty of Medicine of Saint-EtienneJean-Claude Chatard, MD, PhD
MD, PhD at University Hospital and Faculty of Medicine of Saint-Etienne
MD, PhD at University Hospital and Faculty of Medicine of Saint-Etienne
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Professor in the Department of Family Medicine and Community Health at University of Minnesota Medical SchoolWilliam Roberts, MD, MS, FACSM
Professor in the Department of Family Medicine and Community Health at University of Minnesota Medical School
Professor in the Department of Family Medicine and Community Health at University of Minnesota Medical School
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Senior Staff Cardiologist at Royal Prince Alfred HospitalMark McGuire, MD
Senior Staff Cardiologist at Royal Prince Alfred Hospital
Senior Staff Cardiologist at Royal Prince Alfred Hospital
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Professor of Cardiology and Head of Research for the Clinical and Academic group at St. George's UniversitySanjay Sharma, BSc (Hons), MD, FRCP (UK), FESC
Professor of Cardiology and Head of Research for the Clinical and Academic group at St. George's University
Professor of Cardiology and Head of Research for the Clinical and Academic group at St. George's University
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Director, Cardiovascular Pathology Unit at University of Padua Medical SchoolGaetano Thiene, MD, FRCP
Director, Cardiovascular Pathology Unit at University of Padua Medical School
Director, Cardiovascular Pathology Unit at University of Padua Medical School
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Director of the Inherited Arrhythmogenic Cardiomyopathy Unit at University of Padua Medical SchoolDomenico Corrado, MD, PhD, FESC
Director of the Inherited Arrhythmogenic Cardiomyopathy Unit at University of Padua Medical School
Director of the Inherited Arrhythmogenic Cardiomyopathy Unit at University of Padua Medical School
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Genetic Cardiologist at Mayo Clinic, Windland Smith Rice Cardiovascular Genomics Research Professor, Professor of Medicine, Pediatrics, and Pharmacology, Director of Mayo Clinic's Genetic Heart Rhythm Clinic, President of the SADS FoundationMichael Ackerman, MD, PhD
Genetic Cardiologist at Mayo Clinic, Windland Smith Rice Cardiovascular Genomics Research Professor, Professor of Medicine, Pediatrics, and Pharmacology, Director of Mayo Clinic's Genetic Heart Rhythm Clinic, President of the SADS Foundation
Genetic Cardiologist at Mayo Clinic, Windland Smith Rice Cardiovascular Genomics Research Professor, Professor of Medicine, Pediatrics, and Pharmacology, Director of Mayo Clinic's Genetic Heart Rhythm Clinic, President of the SADS Foundation
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Cardiologist at University Hospital Copenhagen, RigshospitaletBo Winkel, MD, PhD
Cardiologist at University Hospital Copenhagen, Rigshospitalet
Cardiologist at University Hospital Copenhagen, Rigshospitalet
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Reader in Cardiovascular Medicine and Honorary Consultant Cardiologist at St. George's UniversityElijah Behr, MD
Reader in Cardiovascular Medicine and Honorary Consultant Cardiologist at St. George's University
Reader in Cardiovascular Medicine and Honorary Consultant Cardiologist at St. George's University
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Cardiologist at St Vincent's Hospital and Baker IDIMaria Brosnan, MBBS, PhD, FRACP
Cardiologist at St Vincent's Hospital and Baker IDI
Cardiologist at St Vincent's Hospital and Baker IDI
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Director, Office of Research Patient Care Services at Stanford Health CareDavid Pickham, PhD, RN, FAHA
Director, Office of Research Patient Care Services at Stanford Health Care
Director, Office of Research Patient Care Services at Stanford Health Care
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Moderators
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Attorney at Law; MD Candidate, Harvard Medical SchoolMatthew Young, Esq.
Attorney at Law; MD Candidate, Harvard Medical School
Attorney at Law; MD Candidate, Harvard Medical School
