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  1. Article ; Online: ALPK3: a full spectrum cardiomyopathy gene?

    Walsh, Roddy / Bezzina, Connie R

    European heart journal

    2021  Volume 42, Issue 32, Page(s) 3074–3077

    MeSH term(s) Cardiomyopathies/genetics ; Cardiomyopathy, Hypertrophic ; Humans
    Language English
    Publishing date 2021-07-21
    Publishing country England
    Document type Editorial ; Research Support, Non-U.S. Gov't ; Comment
    ZDB-ID 603098-1
    ISSN 1522-9645 ; 0195-668X
    ISSN (online) 1522-9645
    ISSN 0195-668X
    DOI 10.1093/eurheartj/ehab415
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    Zs.A 1563: Show issues Location:
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  2. Article ; Online: Research in understudied populations offers local and global insights into the genetics of hypertrophic cardiomyopathy.

    Walsh, Roddy / Bezzina, Connie R

    Polish archives of internal medicine

    2020  Volume 130, Issue 2, Page(s) 76–78

    MeSH term(s) Cardiomyopathy, Hypertrophic ; Humans ; Mutation ; Poland
    Language English
    Publishing date 2020-02-27
    Publishing country Poland
    Document type Editorial ; Research Support, Non-U.S. Gov't ; Comment
    ZDB-ID 123500-x
    ISSN 1897-9483 ; 0032-3772
    ISSN (online) 1897-9483
    ISSN 0032-3772
    DOI 10.20452/pamw.15214
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  3. Article ; Online: Genome-wide association studies of cardiovascular disease.

    Walsh, Roddy / Jurgens, Sean J / Erdmann, Jeanette / Bezzina, Connie R

    Physiological reviews

    2023  Volume 103, Issue 3, Page(s) 2039–2055

    Abstract: Genome-wide association studies (GWAS) aim to identify common genetic variants that are associated with traits and diseases. Since 2005, more than 5,000 GWAS have been published for almost as many traits. These studies have offered insights into the loci ...

    Abstract Genome-wide association studies (GWAS) aim to identify common genetic variants that are associated with traits and diseases. Since 2005, more than 5,000 GWAS have been published for almost as many traits. These studies have offered insights into the loci and genes underlying phenotypic traits, have highlighted genetic correlations across traits and diseases, and are beginning to demonstrate clinical utility by identifying individuals at increased risk for common diseases. GWAS have been widely utilized across cardiovascular diseases and associated phenotypic traits, with insights facilitated by multicenter registry studies and large biobank data sets. In this review, we describe how GWAS have informed the genetic architecture of cardiovascular diseases and the insights they have provided into disease pathophysiology, using archetypal conditions for both common and rare diseases. We also describe how biobank data sets can complement disease-specific studies, particularly for rarer cardiovascular diseases, and how findings from GWAS have the potential to impact on clinical care. Finally, we discuss the outstanding challenges facing research in this field and how they can be addressed.
    MeSH term(s) Humans ; Genome-Wide Association Study ; Cardiovascular Diseases/genetics ; Phenotype ; Genetic Predisposition to Disease ; Multicenter Studies as Topic
    Language English
    Publishing date 2023-01-12
    Publishing country United States
    Document type Journal Article ; Review ; Research Support, Non-U.S. Gov't
    ZDB-ID 209902-0
    ISSN 1522-1210 ; 0031-9333
    ISSN (online) 1522-1210
    ISSN 0031-9333
    DOI 10.1152/physrev.00024.2022
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  4. Article ; Online: Illuminating the path from genetics to clinical outcome in Brugada syndrome.

    Postema, Pieter G / Walsh, Roddy / Bezzina, Connie R

    European heart journal

    2021  Volume 42, Issue 11, Page(s) 1091–1093

    MeSH term(s) Brugada Syndrome/genetics ; Electrocardiography ; Humans ; NAV1.5 Voltage-Gated Sodium Channel/genetics
    Chemical Substances NAV1.5 Voltage-Gated Sodium Channel
    Language English
    Publishing date 2021-01-11
    Publishing country England
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 603098-1
    ISSN 1522-9645 ; 0195-668X
    ISSN (online) 1522-9645
    ISSN 0195-668X
    DOI 10.1093/eurheartj/ehaa994
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  5. Article ; Online: Novelties in Brugada Syndrome: Complex Genetics, Risk Stratification, and Catheter Ablation.

    Hoeksema, Wiert F / Amin, Ahmad S / Bezzina, Connie R / Wilde, Arthur A M / Postema, Pieter G

    Cardiac electrophysiology clinics

    2023  Volume 15, Issue 3, Page(s) 273–283

    Abstract: Brugada syndrome (BrS) is an inherited arrhythmia syndrome with distinctive electrocardiographic abnormalities in the right precordial leads and predisposes to ventricular arrhythmias and sudden cardiac death in otherwise healthy patients. Its complex ... ...

    Abstract Brugada syndrome (BrS) is an inherited arrhythmia syndrome with distinctive electrocardiographic abnormalities in the right precordial leads and predisposes to ventricular arrhythmias and sudden cardiac death in otherwise healthy patients. Its complex genetic architecture and pathophysiological mechanism are not yet completely understood, and risk stratification remains challenging, particularly in patients at intermediate risk of arrhythmic events. Further understanding of its complex genetic architecture may help improving future risk stratification, and advances in management may contribute to alternatives to implantable cardioverter-defibrillators. Here, the authors review the latest insights and developments in BrS.
    MeSH term(s) Humans ; Electrocardiography ; Brugada Syndrome/genetics ; Defibrillators, Implantable ; Death, Sudden, Cardiac ; Catheter Ablation ; Risk Assessment
    Language English
    Publishing date 2023-06-20
    Publishing country United States
    Document type Journal Article ; Review ; Research Support, Non-U.S. Gov't
    ISSN 1877-9190
    ISSN (online) 1877-9190
    DOI 10.1016/j.ccep.2023.05.002
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  6. Article ; Online: Scientists on the Spot: The complex inheritance of cardiac disorders.

    Patel, Jyoti / Bezzina, Connie R

    Cardiovascular research

    2019  Volume 116, Issue 1, Page(s) e11

    MeSH term(s) Arrhythmias, Cardiac/diagnosis ; Arrhythmias, Cardiac/genetics ; Arrhythmias, Cardiac/history ; Biomedical Research/history ; Death, Sudden, Cardiac/etiology ; Genetic Predisposition to Disease ; Genome-Wide Association Study ; History, 20th Century ; History, 21st Century ; Multifactorial Inheritance ; Phenotype ; Risk Assessment ; Risk Factors
    Language English
    Publishing date 2019-12-12
    Publishing country England
    Document type Biography ; Historical Article ; Interview ; Portrait ; Video-Audio Media
    ZDB-ID 80340-6
    ISSN 1755-3245 ; 0008-6363
    ISSN (online) 1755-3245
    ISSN 0008-6363
    DOI 10.1093/cvr/cvz295
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    Zs.A 565: Show issues Location:
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  7. Article ; Online: Clinical interpretation of KCNH2 variants using a robust PS3/BS3 functional patch-clamp assay.

    Thomson, Kate L / Jiang, Connie / Richardson, Ebony / Westphal, Dominik S / Burkard, Tobias / Wolf, Cordula M / Vatta, Matteo / Harrison, Steven M / Ingles, Jodie / Bezzina, Connie R / Kroncke, Brett M / Vandenberg, Jamie I / Ng, Chai-Ann

    HGG advances

    2024  Volume 5, Issue 2, Page(s) 100270

    Abstract: Long QT syndrome (LQTS), caused by the dysfunction of cardiac ion channels, increases the risk of sudden death in otherwise healthy young people. For many variants in LQTS genes, there is insufficient evidence to make a definitive genetic diagnosis. We ... ...

    Abstract Long QT syndrome (LQTS), caused by the dysfunction of cardiac ion channels, increases the risk of sudden death in otherwise healthy young people. For many variants in LQTS genes, there is insufficient evidence to make a definitive genetic diagnosis. We have established a robust functional patch-clamp assay to facilitate classification of missense variants in KCNH2, one of the key LQTS genes. A curated set of 30 benign and 30 pathogenic missense variants were used to establish the range of normal and abnormal function. The extent to which variants reduced protein function was quantified using Z scores, the number of standard deviations from the mean of the normalized current density of the set of benign variant controls. A Z score of -2 defined the threshold for abnormal loss of function, which corresponds to 55% wild-type function. More extreme Z scores were observed for variants with a greater loss-of-function effect. We propose that the Z score for each variant can be used to inform the application and weighting of abnormal and normal functional evidence criteria (PS3 and BS3) within the American College of Medical Genetics and Genomics variant classification framework. The validity of this approach was demonstrated using a series of 18 KCNH2 missense variants detected in a childhood onset LQTS cohort, where the level of function assessed using our assay correlated to the Schwartz score (a scoring system used to quantify the probability of a clinical diagnosis of LQTS) and the length of the corrected QT (QTc) interval.
    MeSH term(s) Child ; Humans ; Death, Sudden ; ERG1 Potassium Channel/genetics ; Heart ; Long QT Syndrome/diagnosis ; Mutation, Missense
    Chemical Substances ERG1 Potassium Channel ; KCNH2 protein, human
    Language English
    Publishing date 2024-01-14
    Publishing country United States
    Document type Journal Article
    ISSN 2666-2477
    ISSN (online) 2666-2477
    DOI 10.1016/j.xhgg.2024.100270
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  8. Article ; Online: Common genetic variation and risk for sudden cardiac death in acquired cardiac disease.

    Bezzina, Connie R

    Heart rhythm

    2014  Volume 11, Issue 4, Page(s) 653–654

    MeSH term(s) Calsequestrin/genetics ; Coronary Disease/complications ; Death, Sudden, Cardiac/etiology ; Female ; Heart Failure/genetics ; Humans ; Male ; Polymorphism, Single Nucleotide/genetics
    Chemical Substances CASQ2 protein, human ; Calsequestrin
    Language English
    Publishing date 2014-04
    Publishing country United States
    Document type Comment ; Editorial
    ZDB-ID 2229357-7
    ISSN 1556-3871 ; 1547-5271
    ISSN (online) 1556-3871
    ISSN 1547-5271
    DOI 10.1016/j.hrthm.2014.01.032
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  9. Article ; Online: Cardiac Repolarization in Health and Disease.

    Krijger Juárez, Christian / Amin, Ahmad S / Offerhaus, Joost A / Bezzina, Connie R / Boukens, Bastiaan J

    JACC. Clinical electrophysiology

    2022  Volume 9, Issue 1, Page(s) 124–138

    Abstract: Abnormal cardiac repolarization is at the basis of life-threatening arrhythmias in various congenital and acquired cardiac diseases. Dysfunction of ion channels involved in repolarization at the cellular level are often the underlying cause of the ... ...

    Abstract Abnormal cardiac repolarization is at the basis of life-threatening arrhythmias in various congenital and acquired cardiac diseases. Dysfunction of ion channels involved in repolarization at the cellular level are often the underlying cause of the repolarization abnormality. The expression pattern of the gene encoding the affected ion channel dictates its impact on the shape of the T-wave and duration of the QT interval, thereby setting the stage for both the occurrence of the trigger and the substrate for maintenance of the arrhythmia. Here we discuss how research into the genetic and electrophysiological basis of repolarization has provided us with insights into cardiac repolarization in health and disease and how this in turn may provide the basis for future improved patient-specific management.
    MeSH term(s) Humans ; Heart ; Arrhythmias, Cardiac/genetics ; Electrophysiological Phenomena
    Language English
    Publishing date 2022-11-30
    Publishing country United States
    Document type Journal Article ; Review ; Research Support, Non-U.S. Gov't
    ZDB-ID 2846739-5
    ISSN 2405-5018 ; 2405-500X ; 2405-500X
    ISSN (online) 2405-5018 ; 2405-500X
    ISSN 2405-500X
    DOI 10.1016/j.jacep.2022.09.017
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  10. Article ; Online: Genetics and genomics of arrhythmic risk: current and future strategies to prevent sudden cardiac death.

    Scrocco, Chiara / Bezzina, Connie R / Ackerman, Michael J / Behr, Elijah R

    Nature reviews. Cardiology

    2021  Volume 18, Issue 11, Page(s) 774–784

    Abstract: A genetic risk of sudden cardiac arrest and sudden death due to an arrhythmic cause, known as sudden cardiac death (SCD), has become apparent from epidemiological studies in the general population and in patients with ischaemic heart disease. However, ... ...

    Abstract A genetic risk of sudden cardiac arrest and sudden death due to an arrhythmic cause, known as sudden cardiac death (SCD), has become apparent from epidemiological studies in the general population and in patients with ischaemic heart disease. However, genetic susceptibility to sudden death is greatest in young people and is associated with uncommon, monogenic forms of heart disease. Despite comprehensive pathology and genetic evaluations, SCD remains unexplained in a proportion of young people and is termed sudden arrhythmic death syndrome, which poses challenges to the identification of relatives from affected families who might be at risk of SCD. In this Review, we assess the current understanding of the epidemiology and causes of SCD and evaluate both the monogenic and the polygenic contributions to the risk of SCD in the young and SCD associated with drug therapy. Finally, we analyse the potential clinical role of genomic testing in the prevention of SCD in the general population.
    MeSH term(s) Adolescent ; Arrhythmias, Cardiac/genetics ; Death, Sudden, Cardiac/epidemiology ; Death, Sudden, Cardiac/etiology ; Death, Sudden, Cardiac/prevention & control ; Genetic Predisposition to Disease ; Genomics ; Humans
    Language English
    Publishing date 2021-05-24
    Publishing country England
    Document type Journal Article ; Research Support, Non-U.S. Gov't ; Review
    ZDB-ID 2490375-9
    ISSN 1759-5010 ; 1759-5002
    ISSN (online) 1759-5010
    ISSN 1759-5002
    DOI 10.1038/s41569-021-00555-y
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    Zs.MG 98: Show issues

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