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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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  2. 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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  3. 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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  4. 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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  5. 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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  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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  7. 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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  8. Article ; Online: When genetic burden reaches threshold.

    Walsh, Roddy / Tadros, Rafik / Bezzina, Connie R

    European heart journal

    2020  Volume 41, Issue 39, Page(s) 3849–3855

    Abstract: Rare cardiac genetic diseases have generally been considered to be broadly Mendelian in nature, with clinical genetic testing for these conditions predicated on the detection of a primary causative rare pathogenic variant that will enable cascade genetic ...

    Abstract Rare cardiac genetic diseases have generally been considered to be broadly Mendelian in nature, with clinical genetic testing for these conditions predicated on the detection of a primary causative rare pathogenic variant that will enable cascade genetic screening in families. However, substantial variability in penetrance and disease severity among carriers of pathogenic variants, as well as the inability to detect rare Mendelian variants in considerable proportions of patients, indicates that more complex aetiologies are likely to underlie these diseases. Recent findings have suggested genetic variants across a range of population frequencies and effect sizes may combine, along with non-genetic factors, to determine whether the threshold for expression of disease is reached and the severity of the phenotype. The availability of increasingly large genetically characterized cohorts of patients with rare cardiac diseases is enabling the discovery of common genetic variation that may underlie both variable penetrance in Mendelian diseases and the genetic aetiology of apparently non-Mendelian rare cardiac conditions. It is likely that the genetic architecture of rare cardiac diseases will vary considerably between different conditions as well as between patients with similar phenotypes, ranging from near-Mendelian disease to models more akin to common, complex disease. Uncovering the broad range of genetic factors that predispose patients to rare cardiac diseases offers the promise of improved risk prediction and more focused clinical management in patients and their families.
    MeSH term(s) Genetic Predisposition to Disease ; Genetic Testing ; Genetic Variation/genetics ; Heterozygote ; Humans ; Phenotype ; Rare Diseases
    Language English
    Publishing date 2020-04-15
    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/ehaa269
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  9. Article ; Online: Minor hypertrophic cardiomyopathy genes, major insights into the genetics of cardiomyopathies.

    Walsh, Roddy / Offerhaus, Joost A / Tadros, Rafik / Bezzina, Connie R

    Nature reviews. Cardiology

    2021  Volume 19, Issue 3, Page(s) 151–167

    Abstract: Hypertrophic cardiomyopathy (HCM) was traditionally described as an autosomal dominant Mendelian disease but is now increasingly recognized as having a complex genetic aetiology. Although eight core genes encoding sarcomeric proteins account for >90% of ... ...

    Abstract Hypertrophic cardiomyopathy (HCM) was traditionally described as an autosomal dominant Mendelian disease but is now increasingly recognized as having a complex genetic aetiology. Although eight core genes encoding sarcomeric proteins account for >90% of the pathogenic variants in patients with HCM, variants in several additional genes (ACTN2, ALPK3, CSRP3, FHOD3, FLNC, JPH2, KLHL24, PLN and TRIM63), encoding non-sarcomeric proteins with diverse functions, have been shown to be disease-causing in a small number of patients. Genome-wide association studies (GWAS) have identified numerous loci in cardiomyopathy case-control studies and biobank investigations of left ventricular functional traits. Genes associated with Mendelian cardiomyopathy are enriched in the putative causal gene lists at these loci. Intriguingly, many loci are associated with both HCM and dilated cardiomyopathy but with opposite directions of effect on left ventricular traits, highlighting a genetic basis underlying the contrasting pathophysiological effects observed in each condition. This overlap extends to rare Mendelian variants with distinct variant classes in several genes associated with HCM and dilated cardiomyopathy. In this Review, we appraise the complex contribution of the non-sarcomeric, HCM-associated genes to cardiomyopathies across a range of variant classes (from common non-coding variants of individually low effect size to complete gene knockouts), which provides insights into the genetic basis of cardiomyopathies, causal genes at GWAS loci and the application of clinical genetic testing.
    MeSH term(s) Cardiomyopathies/genetics ; Cardiomyopathy, Dilated/genetics ; Cardiomyopathy, Hypertrophic/genetics ; Genetic Testing ; Genome-Wide Association Study ; Humans ; Mutation
    Language English
    Publishing date 2021-09-15
    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/s41569-021-00608-2
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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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