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      2020 APHRS/HRS expert consensus statement on the investigation of decedents with sudden unexplained death and patients with sudden cardiac arrest, and of their families

      research-article
      , MBChB, PhD, FHRS (APHRS Chair) 1 , , MD, PhD (HRS Chair) 2 , , MBBS, MD, MBA 3 , , MD, PhD 4 , , MD, MPH, FHRS 5 , , MA, MBBS, MD 6 , , MD, FHRS 5 , , MD, PhD 7 , , MPH, PhD 8 , , GradDipGenCouns, PhD, MPH, FHRS 9 , , ScM, PhD, CGC 10 , , MD, PhD 11 , , MD, PhD 12 , , MD, FHRS 13 , , MD, FHRS 14 , , MD, MPH 15 , , MS, CGC 16 , , MD, FHRS 17 , , MD, FHRS, CCDS 18 , , MD, PhD 19 , , MD, FHRS, CEPS‐P 20 , 21 , , MD, PhD 22 , , MBBS, MPH, PhD, FHRS 9 , , MB, BCH, BAO, MD, FRCPath 6 , , MD, PhD 23 , , MBChB, MD, FHRS 24 , , MD, DMSc 25 , , MD, PhD 26
      Journal of Arrhythmia
      John Wiley and Sons Inc.
      Brugada syndrome, cardiac arrest, cardiac genetics, catecholaminergic polymorphic ventricular tachycardia, defibrillator, expert consensus statement, genetic counseling, guidelines, long QT syndrome, postmortem, resuscitation, sudden arrhythmic death syndrome, sudden cardiac death, sudden unexplained death, ventricular arrhythmia

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          Abstract

          This international multidisciplinary document intends to provide clinicians with evidence‐based practical patient‐centered recommendations for evaluating patients and decedents with (aborted) sudden cardiac arrest and their families. The document includes a framework for the investigation of the family allowing steps to be taken, should an inherited condition be found, to minimize further events in affected relatives. Integral to the process is counseling of the patients and families, not only because of the emotionally charged subject, but because finding (or not finding) the cause of the arrest may influence management of family members. The formation of multidisciplinary teams is essential to provide a complete service to the patients and their families, and the varied expertise of the writing committee was formulated to reflect this need. The document sections were divided up and drafted by the writing committee members according to their expertise. The recommendations represent the consensus opinion of the entire writing committee, graded by Class of Recommendation and Level of Evidence. The recommendations were opened for public comment and reviewed by the relevant scientific and clinical document committees of the Asia Pacific Heart Rhythm Society (APHRS) and the Heart Rhythm Society (HRS); the document underwent external review and endorsement by the partner and collaborating societies. While the recommendations are for optimal care, it is recognized that not all resources will be available to all clinicians. Nevertheless, this document articulates the evaluation that the clinician should aspire to provide for patients with sudden cardiac arrest, decedents with sudden unexplained death, and their families.

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          Most cited references361

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          Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

          The American College of Medical Genetics and Genomics (ACMG) previously developed guidance for the interpretation of sequence variants. 1 In the past decade, sequencing technology has evolved rapidly with the advent of high-throughput next generation sequencing. By adopting and leveraging next generation sequencing, clinical laboratories are now performing an ever increasing catalogue of genetic testing spanning genotyping, single genes, gene panels, exomes, genomes, transcriptomes and epigenetic assays for genetic disorders. By virtue of increased complexity, this paradigm shift in genetic testing has been accompanied by new challenges in sequence interpretation. In this context, the ACMG convened a workgroup in 2013 comprised of representatives from the ACMG, the Association for Molecular Pathology (AMP) and the College of American Pathologists (CAP) to revisit and revise the standards and guidelines for the interpretation of sequence variants. The group consisted of clinical laboratory directors and clinicians. This report represents expert opinion of the workgroup with input from ACMG, AMP and CAP stakeholders. These recommendations primarily apply to the breadth of genetic tests used in clinical laboratories including genotyping, single genes, panels, exomes and genomes. This report recommends the use of specific standard terminology: ‘pathogenic’, ‘likely pathogenic’, ‘uncertain significance’, ‘likely benign’, and ‘benign’ to describe variants identified in Mendelian disorders. Moreover, this recommendation describes a process for classification of variants into these five categories based on criteria using typical types of variant evidence (e.g. population data, computational data, functional data, segregation data, etc.). Because of the increased complexity of analysis and interpretation of clinical genetic testing described in this report, the ACMG strongly recommends that clinical molecular genetic testing should be performed in a CLIA-approved laboratory with results interpreted by a board-certified clinical molecular geneticist or molecular genetic pathologist or equivalent.
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            2015 ESC Guidelines for the management of patients with ventricular arrhythmias and the prevention of sudden cardiac death: The Task Force for the Management of Patients with Ventricular Arrhythmias and the Prevention of Sudden Cardiac Death of the European Society of Cardiology (ESC). Endorsed by: Association for European Paediatric and Congenital Cardiology (AEPC).

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              Regional variation in out-of-hospital cardiac arrest incidence and outcome.

              The health and policy implications of regional variation in incidence and outcome of out-of-hospital cardiac arrest remain to be determined. To evaluate whether cardiac arrest incidence and outcome differ across geographic regions. Prospective observational study (the Resuscitation Outcomes Consortium) of all out-of-hospital cardiac arrests in 10 North American sites (8 US and 2 Canadian) from May 1, 2006, to April 30, 2007, followed up to hospital discharge, and including data available as of June 28, 2008. Cases (aged 0-108 years) were assessed by organized emergency medical services (EMS) personnel, did not have traumatic injury, and received attempts at external defibrillation or chest compressions or resuscitation was not attempted. Census data were used to determine rates adjusted for age and sex. Incidence rate, mortality rate, case-fatality rate, and survival to discharge for patients assessed or treated by EMS personnel or with an initial rhythm of ventricular fibrillation. Among the 10 sites, the total catchment population was 21.4 million, and there were 20,520 cardiac arrests. A total of 11,898 (58.0%) had resuscitation attempted; 2729 (22.9% of treated) had initial rhythm of ventricular fibrillation or ventricular tachycardia or rhythms that were shockable by an automated external defibrillator; and 954 (4.6% of total) were discharged alive. The median incidence of EMS-treated cardiac arrest across sites was 52.1 (interquartile range [IQR], 48.0-70.1) per 100,000 population; survival ranged from 3.0% to 16.3%, with a median of 8.4% (IQR, 5.4%-10.4%). Median ventricular fibrillation incidence was 12.6 (IQR, 10.6-5.2) per 100,000 population; survival ranged from 7.7% to 39.9%, with a median of 22.0% (IQR, 15.0%-24.4%), with significant differences across sites for incidence and survival (P<.001). In this study involving 10 geographic regions in North America, there were significant and important regional differences in out-of-hospital cardiac arrest incidence and outcome.
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                Author and article information

                Journal
                J Arrhythm
                J Arrhythm
                10.1002/(ISSN)1883-2148
                JOA3
                Journal of Arrhythmia
                John Wiley and Sons Inc. (Hoboken )
                1880-4276
                1883-2148
                08 April 2021
                June 2021
                : 37
                : 3 ( doiID: 10.1002/joa3.v37.3 )
                : 481-534
                Affiliations
                [ 1 ] Waikato Clinical School Faculty of Medicine and Health Science The University of Auckland Hamilton New Zealand
                [ 2 ] Heart Center Department of Clinical and Experimental Cardiology Amsterdam University Medical Center University of Amsterdam Amsterdam the Netherlands
                [ 3 ] Boston Children’s Hospital Boston MA USA
                [ 4 ] Mayo Clinic Rochester MN USA
                [ 5 ] Cedars‐Sinai Medical Center Los Angeles CA USA
                [ 6 ] Cardiovascular Clinical Academic Group, Molecular and Clinical Sciences Institute St George’s University of London, and St George’s University Hospitals NHS Foundation Trust London UK
                [ 7 ] Amsterdam University Medical Center Vrije Universiteit Amsterdam Clinical Genetics Amsterdam Public Health Research Institute Amsterdam the Netherlands
                [ 8 ] University of New South Wales Canberra Australia
                [ 9 ] Agnes Ginges Centre for Molecular Cardiology at Centenary Institute The University of Sydney Sydney Australia
                [ 10 ] Johns Hopkins University Baltimore MD USA
                [ 11 ] Cardiovascular Center and Division of Cardiology Department of Internal Medicine National Taiwan University Hospital and National Taiwan University College of Medicine Taipei Taiwan
                [ 12 ] Department of Medicine I University Hospital LMU Munich Munich Germany
                [ 13 ] MetroHealth Campus Case Western Reserve University Cleveland OH USA
                [ 14 ] The University of British Columbia Vancouver BC Canada
                [ 15 ] Massachusetts General Hospital Boston MA USA
                [ 16 ] Data Coordinating Center for the Sudden Death in the Young Case Registry Okemos MI USA
                [ 17 ] Libin Cardiovascular Institute Calgary AB Canada
                [ 18 ] Chulalongkorn University Faculty of Medicine, and Pacific Rim Electrophysiology Research Institute at Bumrungrad Hospital Bangkok Thailand
                [ 19 ] CHU de Nantes Nantes France
                [ 20 ] Cleveland Clinic Lerner College of Cardiology at Case Western Reserve University Cleveland OH USA
                [ 21 ] St Luke’s Medical Center Boise ID USA
                [ 22 ] Heart Institute University of São Paulo Medical School São Paulo Brazil
                [ 23 ] Department of Cardiovascular Medicine Nippon Medical School Tokyo Japan
                [ 24 ] Cardiac Inherited Disease Group Starship Hospital Auckland New Zealand
                [ 25 ] Department of Forensic Medicine Faculty of Medical Sciences Rigshospitalet Copenhagen Denmark
                [ 26 ] The First Affiliated Hospital of Nanjing Medical University Nanjing China
                Author notes
                [*]

                Representative of the Pediatric and Congenital Electrophysiology Society (PACES)

                [†]

                Representative of the Heart Rhythm Society (HRS)

                [‡]

                Representative of the European Heart Rhythm Association (EHRA)

                [§]

                Representative of the European Society of Human Genetics (ESHG)

                [¶]

                Representative of the Asia Pacific Heart Rhythm Society (APHRS)

                [#]

                Representative of the National Society of Genetic Counselors (NSGC)

                [**]

                Representative of the Latin American Heart Rhythm Society (LAHRS)

                [††]

                Representative of the Association for European Cardiovascular Pathology (AECVP)

                [¥]

                Member of the European Cardiac Arrhythmia Genetics (ECGen) Focus Group of the European Heart Rhythm Association (EHRA)

                [II]

                Member of the European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart: ERN GUARD‐Heart

                [Δ]

                Patient representative

                [^]

                Martin K. Stiles, MBChB, PhD, FHRS, and Arthur A. M. Wilde, MD, PhD, are co‐first authors.

                Article
                JOA312449
                10.1002/joa3.12449
                8207384
                34141003
                5f3ddad1-d7c7-4aea-a4c3-f7b6ab92e50c
                © 2021 The Asia Pacific Heart Rhythm Society and the Heart Rhythm Society. Published by John Wiley and Sons Australia, Ltd / Elsevier Inc. This article is published under the Creative Commons CC‐BY license.

                © 2021 The Asia Pacific Heart Rhythm Society and the Heart Rhythm Society. Published by John Wiley and Sons Australia, Ltd / Elsevier Inc. This article is published under the Creative Commons CC‐BY license.

                History
                : 14 October 2020
                : 14 October 2020
                Page count
                Figures: 17, Tables: 24, Pages: 54, Words: 38515
                Categories
                Guideline
                Guideline
                Custom metadata
                2.0
                June 2021
                Converter:WILEY_ML3GV2_TO_JATSPMC version:6.0.2 mode:remove_FC converted:16.06.2021

                brugada syndrome,cardiac arrest,cardiac genetics,catecholaminergic polymorphic ventricular tachycardia,defibrillator,expert consensus statement,genetic counseling,guidelines,long qt syndrome,postmortem,resuscitation,sudden arrhythmic death syndrome,sudden cardiac death,sudden unexplained death,ventricular arrhythmia

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