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  1. Article ; Online: Monoallelic TTN Truncation Variants Identified in Individuals With DCM May Cause a Mild Skeletal Myopathy.

    Hinson, J Travis / Hershberger, Ray E

    JACC. Heart failure

    2024  Volume 12, Issue 4, Page(s) 754–756

    MeSH term(s) Humans ; Heart Failure ; Muscular Diseases/genetics ; Connectin ; Mutation
    Chemical Substances Connectin ; TTN protein, human
    Language English
    Publishing date 2024-01-10
    Publishing country United States
    Document type Editorial
    ZDB-ID 2705621-1
    ISSN 2213-1787 ; 2213-1779
    ISSN (online) 2213-1787
    ISSN 2213-1779
    DOI 10.1016/j.jchf.2023.11.014
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: The Evolving Science of Dilated Cardiomyopathy.

    Hershberger, Ray E

    Journal of the American College of Cardiology

    2021  Volume 78, Issue 17, Page(s) 1700–1702

    MeSH term(s) Cardiomyopathy, Dilated/diagnosis ; Humans ; Stroke Volume ; Ventricular Function, Left
    Language English
    Publishing date 2021-10-21
    Publishing country United States
    Document type Editorial ; Research Support, N.I.H., Extramural ; Comment
    ZDB-ID 605507-2
    ISSN 1558-3597 ; 0735-1097
    ISSN (online) 1558-3597
    ISSN 0735-1097
    DOI 10.1016/j.jacc.2021.08.038
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  3. Article ; Online: Transcriptomics and Beyond in Dilated Cardiomyopathy.

    Cowan, Jason R / Hershberger, Ray E

    JACC. Basic to translational science

    2023  Volume 8, Issue 4, Page(s) 419–421

    Language English
    Publishing date 2023-04-24
    Publishing country United States
    Document type Editorial
    ISSN 2452-302X
    ISSN (online) 2452-302X
    DOI 10.1016/j.jacbts.2023.01.016
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  4. Article ; Online: Dilated Cardiomyopathy: New Distinct Phenotypes or Temporal Phases of Disease?

    Hershberger, Ray E / Zareba, Karolina M

    Journal of the American College of Cardiology

    2020  Volume 79, Issue 22, Page(s) 2233–2235

    MeSH term(s) Cardiomyopathy, Dilated/diagnosis ; Cardiomyopathy, Dilated/genetics ; Humans ; Phenotype
    Language English
    Publishing date 2020-09-15
    Publishing country United States
    Document type Editorial ; Research Support, N.I.H., Extramural ; Comment
    ZDB-ID 605507-2
    ISSN 1558-3597 ; 0735-1097
    ISSN (online) 1558-3597
    ISSN 0735-1097
    DOI 10.1016/j.jacc.2022.04.008
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  5. Article ; Online: Considering complexity in the genetic evaluation of dilated cardiomyopathy.

    Jordan, Elizabeth / Hershberger, Ray E

    Heart (British Cardiac Society)

    2020  Volume 107, Issue 2, Page(s) 106–112

    Abstract: Dilated cardiomyopathy (DCM) is a cardiovascular disease of genetic aetiology that causes substantial morbidity and mortality, and presents considerable opportunity for disease mitigation and prevention in those at risk. Foundational to the process of ... ...

    Abstract Dilated cardiomyopathy (DCM) is a cardiovascular disease of genetic aetiology that causes substantial morbidity and mortality, and presents considerable opportunity for disease mitigation and prevention in those at risk. Foundational to the process of caring for patients diagnosed with DCM is a clinical genetic evaluation, which always begins with a comprehensive family history and clinical evaluation. Genetic testing of the proband, the first patient identified in a family with DCM, within the context of genetic counselling is always indicated, regardless of whether the DCM is familial or non-familial. Clinical screening of at-risk family members is also indicated, as is cascade genetic testing for actionable variants found at genetic testing in the proband. Clinicians now have expansive panels with many genes available for DCM genetic testing, and the approaches used to evaluate rare variants to decide which are disease-causing continues to rapidly evolve. Despite these recent advances, only a minority of cases yield actionable variants, even in familial DCM where a genetic aetiology is highly likely. This underscores that our knowledge of DCM clinical genetics remains incomplete, including variant interpretation and DCM genetic architecture. Emerging data suggest that the single-variant Mendelian disease model is insufficient to explain some DCM cases, and rather that multiple variants, both common and rare, and at times key environmental factors, interact to cause DCM. A simple model illustrating the intersection of DCM genetic architecture with environmental impact is provided.
    MeSH term(s) Cardiomyopathy, Dilated/diagnosis ; Cardiomyopathy, Dilated/genetics ; Decision Trees ; Genetic Testing ; Humans
    Language English
    Publishing date 2020-10-27
    Publishing country England
    Document type Journal Article ; Research Support, N.I.H., Extramural ; Review
    ZDB-ID 1303417-0
    ISSN 1468-201X ; 1355-6037
    ISSN (online) 1468-201X
    ISSN 1355-6037
    DOI 10.1136/heartjnl-2020-316658
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    Zs.MO 112: Show issues

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  6. Article ; Online: Variants of Uncertain Significance: Should We Revisit How They Are Evaluated and Disclosed?

    Morales, Ana / Hershberger, Ray E

    Circulation. Genomic and precision medicine

    2018  Volume 11, Issue 6, Page(s) e002169

    MeSH term(s) Genetic Counseling ; Genomics ; Humans ; Uncertainty
    Language English
    Publishing date 2018-05-30
    Publishing country United States
    Document type Editorial ; Research Support, N.I.H., Extramural ; Comment
    ISSN 2574-8300
    ISSN (online) 2574-8300
    DOI 10.1161/CIRCGEN.118.002169
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  7. Article ; Online: Genetic cardiomyopathies.

    Wilcox, Jane E / Hershberger, Ray E

    Current opinion in cardiology

    2018  Volume 33, Issue 3, Page(s) 354–362

    Abstract: Purpose of review: To describe recent advancements in cardiovascular genetics made possible by leveraging next-generation sequencing (NGS), and to provide a framework for practical applications of genetic testing for hypertrophic (HCM), dilated (DCM), ... ...

    Abstract Purpose of review: To describe recent advancements in cardiovascular genetics made possible by leveraging next-generation sequencing (NGS), and to provide a framework for practical applications of genetic testing for hypertrophic (HCM), dilated (DCM), and arrhythmogenic right ventricular cardiomyopathies (ARVC).
    Recent findings: The availability of NGS has made possible extensive reference databases. These, combined with recent initiatives to compile previously siloed commercial and research cardiomyopathy data sets, provide a more powerful and precise approach to cardiovascular genetic medicine. HCM, DCM and ARVC are cardiomyopathies usually inherited in an autosomal dominant pattern. Over 1000 pathogenic mutations have been identified: HCM in genes encoding proteins of the sarcomere, and ARVC in genes encoding proteins of the desosome. DCM shows considerably more diverse ontology, suggesting more complex pathophysiology. In addition to allelic and locus heterogeneity, reduced penetrance and variable expressivity among affected individuals can make the clinical diagnosis of 'familial cardiomyopathy' less apparent.
    Summary: Current evidence supports the use of genetic testing in clinical practice to improve risk stratification for clinically affected patients and their at-risk relatives for hypertrophic, arrhythmogenic, and dilated cardiomyopathies. Understanding how to implement genetic testing and to evaluate at-risk family members, provide clinical implications of results as well as discuss limitations of genetic testing is essential to improving personalized care.
    MeSH term(s) Cardiomyopathies/diagnosis ; Cardiomyopathies/genetics ; Genetic Association Studies/methods ; Genetic Testing/methods ; High-Throughput Nucleotide Sequencing/methods ; Humans ; Sequence Analysis, DNA
    Language English
    Publishing date 2018-03-21
    Publishing country United States
    Document type Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't ; Review
    ZDB-ID 645186-x
    ISSN 1531-7080 ; 0268-4705
    ISSN (online) 1531-7080
    ISSN 0268-4705
    DOI 10.1097/HCO.0000000000000512
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    Zs.A 2556: Show issues Location:
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  8. Article ; Online: The Complex and Diverse Genetic Architecture of Dilated Cardiomyopathy.

    Hershberger, Ray E / Cowan, Jason / Jordan, Elizabeth / Kinnamon, Daniel D

    Circulation research

    2021  Volume 128, Issue 10, Page(s) 1514–1532

    Abstract: Our insight into the diverse and complex nature of dilated cardiomyopathy (DCM) genetic architecture continues to evolve rapidly. The foundations of DCM genetics rest on marked locus and allelic heterogeneity. While DCM exhibits a Mendelian, monogenic ... ...

    Abstract Our insight into the diverse and complex nature of dilated cardiomyopathy (DCM) genetic architecture continues to evolve rapidly. The foundations of DCM genetics rest on marked locus and allelic heterogeneity. While DCM exhibits a Mendelian, monogenic architecture in some families, preliminary data from our studies and others suggests that at least 20% to 30% of DCM may have an oligogenic basis, meaning that multiple rare variants from different, unlinked loci, determine the DCM phenotype. It is also likely that low-frequency and common genetic variation contribute to DCM complexity, but neither has been examined within a rare variant context. Other types of genetic variation are also likely relevant for DCM, along with gene-by-environment interaction, now established for alcohol- and chemotherapy-related DCM. Collectively, this suggests that the genetic architecture of DCM is broader in scope and more complex than previously understood. All of this elevates the impact of DCM genetics research, as greater insight into the causes of DCM can lead to interventions to mitigate or even prevent it and thus avoid the morbid and mortal scourge of human heart failure.
    MeSH term(s) Alleles ; Cardiomyopathy, Dilated/genetics ; Cardiomyopathy, Dilated/prevention & control ; Cohort Studies ; Connectin/chemistry ; Cross-Sectional Studies ; Gene-Environment Interaction ; Genetic Loci ; Genetic Variation ; Humans ; Models, Statistical ; Phenotype ; Sarcomeres/chemistry
    Chemical Substances Connectin ; TTN protein, human
    Language English
    Publishing date 2021-05-13
    Publishing country United States
    Document type Journal Article ; Research Support, N.I.H., Extramural ; Review
    ZDB-ID 80100-8
    ISSN 1524-4571 ; 0009-7330 ; 0931-6876
    ISSN (online) 1524-4571
    ISSN 0009-7330 ; 0931-6876
    DOI 10.1161/CIRCRESAHA.121.318157
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  9. Article ; Online: Communal Coping as a Strategy to Enhance Family Engagement in Dilated Cardiomyopathy.

    Burke, Wylie / Hovick, Shelly R / Jordan, Elizabeth / Ni, Hanyu / Kinnamon, Daniel D / Hershberger, Ray E

    Circulation. Genomic and precision medicine

    2022  Volume 15, Issue 3, Page(s) e003541

    Abstract: Background: Assuring that relatives are informed about a genetic diagnosis and have appropriate medical follow-up can be challenging. We hypothesize that communal coping (CC)-an approach in which a group views a stressor (such as a new genetic diagnosis) ...

    Abstract Background: Assuring that relatives are informed about a genetic diagnosis and have appropriate medical follow-up can be challenging. We hypothesize that communal coping (CC)-an approach in which a group views a stressor (such as a new genetic diagnosis) as our problem, versus my or your problem, and takes joint action to address it-can help families to address this challenge. A better understanding of CC could also inform counseling interventions to promote CC and family follow-up.
    Methods: In the Dilated Cardiomyopathy (DCM) PM study (Precision Medicine), living first-degree relatives of DCM probands were invited to undergo clinical screening; 31% of these did so. This research program offers the opportunity to determine the frequency of CC in DCM families, assess whether CC attitudes and actions occurred more commonly among families in which family members participated, and conduct prospective follow-up to evaluate family coping and counseling needs over time.
    Results: The proposed studies will provide evidence about the frequency of CC attitudes and actions among DCM families, assess the association of CC with increased family follow-up, and identify counseling needs related to family follow-up.
    Conclusions: The DCM PM study offers an opportunity to test the hypothesis that CC contributes to increased family follow-up and generate evidence to inform counseling interventions to encourage such follow-up.
    MeSH term(s) Adaptation, Psychological ; Cardiomyopathy, Dilated/diagnosis ; Cardiomyopathy, Dilated/genetics ; Family ; Humans ; Precision Medicine ; Prospective Studies
    Language English
    Publishing date 2022-05-10
    Publishing country United States
    Document type Journal Article ; Review ; Research Support, N.I.H., Extramural
    ISSN 2574-8300
    ISSN (online) 2574-8300
    DOI 10.1161/CIRCGEN.121.003541
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  10. Article: The DCM Project Portal: A direct-to-participant platform of The DCM Research Project.

    Jordan, Elizabeth S / Grover, Phoenix L / Lin, Jay / Starkey, Carl A / Finley, Elizabeth A / Ni, Hanyu / Hershberger, Ray E

    medRxiv : the preprint server for health sciences

    2023  

    Abstract: Study objective: To develop a digital platform to conduct family-based, dilated cardiomyopathy (DCM) genetic research.: Design: Innovative approaches are needed to achieve large family enrollment targets. The DCM Project Portal, a direct-to- ... ...

    Abstract Study objective: To develop a digital platform to conduct family-based, dilated cardiomyopathy (DCM) genetic research.
    Design: Innovative approaches are needed to achieve large family enrollment targets. The DCM Project Portal, a direct-to-participant electronic recruitment, consent, and communication tool, was designed using prior experience with traditional enrollment methods, characteristics and feedback of current participants, and internet access of the US population.
    Participants: DCM patients (probands) and their family members.
    Results: The portal was designed as a self-guided, three module (registration, eligibility, and consent) process with internally created supporting informational and messaging resources integrated throughout. The experience can be tailored to user type and the format adapted with programmatic growth. Characteristics of participants of the recently completed DCM Precision Medicine Study were assessed as an exemplary user population. A majority of the diverse (34% non-Hispanic Black (NHE-B), 9.1% Hispanic; 53.6% female) proband (n=1223) and family members (n=1781) participants aged ≥18 years reported
    Conclusions: Digital enrollment tools offer opportunity to improve access and efficiency. The portal is an example of a digital approach to family-based genetic research.
    Language English
    Publishing date 2023-06-29
    Publishing country United States
    Document type Preprint
    DOI 10.1101/2023.06.22.23291764
    Database MEDical Literature Analysis and Retrieval System OnLINE

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