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  1. Article ; Online: Left Ventricular Diastolic Dysfunction in Hutchinson-Gilford Progeria Syndrome.

    Fatkin, Diane

    JAMA cardiology

    2018  Volume 3, Issue 4, Page(s) 334–335

    MeSH term(s) Humans ; Progeria ; Ventricular Dysfunction, Left
    Language English
    Publishing date 2018-02-21
    Publishing country United States
    Document type Journal Article ; Comment
    ISSN 2380-6591
    ISSN (online) 2380-6591
    DOI 10.1001/jamacardio.2017.5377
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: A Novel Role for FKBP5 in Atrial Cardiomyopathy.

    Fatkin, Diane / Ohanian, Monique / Brown, Kemar J

    Circulation research

    2023  Volume 133, Issue 1, Page(s) 45–47

    MeSH term(s) Humans ; Atrial Fibrillation ; Myocardium ; Heart Failure ; Cardiomyopathies/genetics ; Heart Atria
    Language English
    Publishing date 2023-06-22
    Publishing country United States
    Document type Editorial ; Research Support, Non-U.S. Gov't ; Comment
    ZDB-ID 80100-8
    ISSN 1524-4571 ; 0009-7330 ; 0931-6876
    ISSN (online) 1524-4571
    ISSN 0009-7330 ; 0931-6876
    DOI 10.1161/CIRCRESAHA.123.322988
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article ; Online: ETV1: A New Player in Atrial Remodeling.

    Fatkin, Diane

    Circulation research

    2018  Volume 123, Issue 5, Page(s) 515–517

    MeSH term(s) Atrial Fibrillation ; Atrial Remodeling ; DNA-Binding Proteins ; Heart Atria ; Humans ; Transcription Factors
    Chemical Substances DNA-Binding Proteins ; ETV1 protein, human ; Transcription Factors
    Language English
    Publishing date 2018-10-30
    Publishing country United States
    Document type Editorial ; Research Support, Non-U.S. Gov't ; Comment
    ZDB-ID 80100-8
    ISSN 1524-4571 ; 0009-7330 ; 0931-6876
    ISSN (online) 1524-4571
    ISSN 0009-7330 ; 0931-6876
    DOI 10.1161/CIRCRESAHA.118.313606
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  4. Article ; Online: Genetic testing in cardiovascular disease.

    Gray, Michael P / Fatkin, Diane / Ingles, Jodie / Robertson, Elizabeth N / Figtree, Gemma A

    The Medical journal of Australia

    2024  

    Abstract: Cardiovascular disease (CVD) is the leading cause of morbidity and mortality globally and is responsible for an estimated one-third of deaths as well as significant morbidity and health care utilisation. Technological and bioinformatic advances have ... ...

    Abstract Cardiovascular disease (CVD) is the leading cause of morbidity and mortality globally and is responsible for an estimated one-third of deaths as well as significant morbidity and health care utilisation. Technological and bioinformatic advances have facilitated the discovery of pathogenic germline variants for some specific CVDs, including familial hypercholesterolaemia, cardiomyopathies and arrhythmic syndromes. Use of these genetic tests for earlier disease identification is increasing due, in part, to decreasing costs, Medicare rebates, and consumer comfort with genetic testing. However, CVDs that occur more commonly, including coronary artery disease and atrial fibrillation, do not display monogenic inheritance patterns. Genetically, these diseases have generally been associated with many genetic variants each with a small effect size. This complexity can be expressed mathematically as a polygenic risk score. Genetic testing kits that provide polygenic risk scoring are becoming increasingly available directly to private-paying consumers outside the traditional clinical setting. An improved understanding of the evidence of genetics in CVD will offer clinicians new opportunities for individualised risk prediction and preventive therapy.
    Language English
    Publishing date 2024-04-04
    Publishing country Australia
    Document type Journal Article ; Review
    ZDB-ID 186082-3
    ISSN 1326-5377 ; 0025-729X
    ISSN (online) 1326-5377
    ISSN 0025-729X
    DOI 10.5694/mja2.52278
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  5. Article ; Online: Fishing for Links Between Omega-3 Fatty Acids and Atrial Fibrillation.

    Fatkin, Diane / Cox, Charles D / Martinac, Boris

    Circulation

    2022  Volume 145, Issue 14, Page(s) 1037–1039

    MeSH term(s) Humans ; Atrial Fibrillation/drug therapy ; Fatty Acids, Omega-3/therapeutic use
    Chemical Substances Fatty Acids, Omega-3
    Language English
    Publishing date 2022-04-04
    Publishing country United States
    Document type Journal Article
    ZDB-ID 80099-5
    ISSN 1524-4539 ; 0009-7322 ; 0069-4193 ; 0065-8499
    ISSN (online) 1524-4539
    ISSN 0009-7322 ; 0069-4193 ; 0065-8499
    DOI 10.1161/CIRCULATIONAHA.121.058596
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  6. Article ; Online: Variants of Uncertain Significance and "Missing Pathogenicity".

    Fatkin, Diane / Johnson, Renee

    Journal of the American Heart Association

    2020  Volume 9, Issue 3, Page(s) e015588

    MeSH term(s) Biological Specimen Banks ; Genetic Testing ; Humans ; Uncertainty ; Virulence
    Language English
    Publishing date 2020-02-03
    Publishing country England
    Document type Editorial ; Comment
    ZDB-ID 2653953-6
    ISSN 2047-9980 ; 2047-9980
    ISSN (online) 2047-9980
    ISSN 2047-9980
    DOI 10.1161/JAHA.119.015588
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  7. Article ; Online: Titin-related Cardiomyopathy: Is it a Distinct Disease?

    Santiago, Celine F / Huttner, Inken G / Fatkin, Diane

    Current cardiology reports

    2022  Volume 24, Issue 9, Page(s) 1069–1075

    Abstract: Purpose of review: Truncating TTN variants (TTNtv) are the most common genetic cause of dilated cardiomyopathy (DCM), but the underlying mechanisms are incompletely understood and effective therapeutic strategies are lacking. Here we review recent data ... ...

    Abstract Purpose of review: Truncating TTN variants (TTNtv) are the most common genetic cause of dilated cardiomyopathy (DCM), but the underlying mechanisms are incompletely understood and effective therapeutic strategies are lacking. Here we review recent data that shed new light on the functional consequences of TTNtv and how these effects may vary with mutation location.
    Recent findings: Whether TTNtv act by haploinsufficiency or dominant negative effects has been hotly debated. New evidence now implicates both mechanisms in TTNtv-related DCM, showing reduced titin content and persistent truncated titin that may be incorporated into protein aggregates. The extent to which aggregate formation and protein quality control defects differ with TTNtv location and contribute to contractile dysfunction is unresolved. TTNtv-associated DCM has a complex etiology that involves varying combinations of wild-type titin deficiency and dominant negative effects of truncated mutant titin. Therapeutic strategies to improve protein handling may be beneficial in some cases.
    MeSH term(s) Cardiomyopathies/genetics ; Cardiomyopathy, Dilated/genetics ; Connectin/genetics ; Connectin/metabolism ; Humans ; Mutation
    Chemical Substances Connectin
    Language English
    Publishing date 2022-06-27
    Publishing country United States
    Document type Journal Article ; Review ; Research Support, Non-U.S. Gov't
    ZDB-ID 2055373-0
    ISSN 1534-3170 ; 1523-3782
    ISSN (online) 1534-3170
    ISSN 1523-3782
    DOI 10.1007/s11886-022-01726-0
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  8. Article ; Online: Pregnancy Outcomes in Females With Dilated Cardiomyopathy-Associated Rare Genetic Variants.

    Peters, Stacey / James, Paul A / Fatkin, Diane / Zentner, Dominica

    Circulation. Genomic and precision medicine

    2022  Volume 15, Issue 2, Page(s) e003540

    MeSH term(s) Cardiomyopathy, Dilated/complications ; Cardiomyopathy, Dilated/genetics ; Female ; Genetic Predisposition to Disease ; Genetic Testing ; Humans ; Pregnancy ; Pregnancy Outcome
    Language English
    Publishing date 2022-02-03
    Publishing country United States
    Document type Letter ; Research Support, Non-U.S. Gov't
    ISSN 2574-8300
    ISSN (online) 2574-8300
    DOI 10.1161/CIRCGEN.121.003540
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  9. Article ; Online: Mechanisms of

    Santiago, Celine F / Huttner, Inken G / Fatkin, Diane

    Journal of cardiovascular development and disease

    2021  Volume 8, Issue 2

    Abstract: Dilated cardiomyopathy (DCM) is a common heart muscle disorder characterized by ventricular dilation and contractile dysfunction that is associated with significant morbidity and mortality. New insights into disease mechanisms and strategies for ... ...

    Abstract Dilated cardiomyopathy (DCM) is a common heart muscle disorder characterized by ventricular dilation and contractile dysfunction that is associated with significant morbidity and mortality. New insights into disease mechanisms and strategies for treatment and prevention are urgently needed. Truncating variants in the
    Language English
    Publishing date 2021-01-25
    Publishing country Switzerland
    Document type Journal Article ; Review
    ZDB-ID 2777082-5
    ISSN 2308-3425 ; 2308-3425
    ISSN (online) 2308-3425
    ISSN 2308-3425
    DOI 10.3390/jcdd8020010
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  10. Article: Atrial cardiomyopathy: Current and future imaging methods for assessment of atrial structure and function.

    Kessler Iglesias, Cassia / Pouliopoulos, Jim / Thomas, Liza / Hayward, Christopher S / Jabbour, Andrew / Fatkin, Diane

    Frontiers in cardiovascular medicine

    2023  Volume 10, Page(s) 1099625

    Abstract: Changes in atrial size and function have historically been considered a surrogate marker of ventricular dysfunction. However, it is now recognized that atrial cardiomyopathy (ACM) may also occur as a primary myocardial disorder. Emerging evidence that ... ...

    Abstract Changes in atrial size and function have historically been considered a surrogate marker of ventricular dysfunction. However, it is now recognized that atrial cardiomyopathy (ACM) may also occur as a primary myocardial disorder. Emerging evidence that ACM is a major risk factor for atrial fibrillation, heart failure, and thromboembolic stroke, has highlighted the significance of this disorder and the need for better assessment of atrial metrics in clinical practice. Key barriers in this regard include a lack of standardized criteria or hierarchy for the diagnosis of ACM and lack of consensus for the most accurate phenotyping methods. In this article we review existing literature on ACM, with a focus on current and future non-invasive imaging methods for detecting abnormalities of atrial structure and function. We discuss the relative advantages and disadvantages of transthoracic echocardiography and cardiac magnetic resonance imaging for assessing a range of parameters, including atrial size and contractile function, strain, tissue characteristics, and epicardial adipose tissue. We will also present the potential application of novel imaging methods such as sphericity index and four- or five-dimensional flow.
    Language English
    Publishing date 2023-03-31
    Publishing country Switzerland
    Document type Journal Article ; Review
    ZDB-ID 2781496-8
    ISSN 2297-055X
    ISSN 2297-055X
    DOI 10.3389/fcvm.2023.1099625
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