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Cardiogenetics, Volume 12, Issue 1

March 2022 - 13 articles

Cover Story: Genetic testing plays an increasing diagnostic and prognostic role in the management of patients with heritable thoracic aortic disease (HTAD). The identification of a specific variant can establish or confirm the diagnosis of syndromic HTAD, dictate extensive evaluation of the arterial tree in HTAD with known distal vasculature involvement and justify closer follow-up and earlier surgical intervention in HTAD with high risk of dissection of minimal or normal aortic size. Evolving phenotype-genotype correlations lead us toward more precise and individualized management and treatment of patients with HTAD. In this review, we present the latest evidence regarding the role of genetics in patients with HTAD. View this paper

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Review

3,768 Views

12 Pages

Nanoparticle-Based Modification of the DNA Methylome: A Therapeutic Tool for Atherosclerosis?

Ana Cristina Márquez-Sánchez,
Lino Sánchez-Segura,
Gertrud Lund and
Silvio Zaina

Cardiogenetics2022, 12(1), 12-23;https://doi.org/10.3390/cardiogenetics12010002

6 January 2022

Cardiovascular epigenomics is a relatively young field of research, yet it is providing novel insights into gene regulation in the atherosclerotic arterial wall. That information is already pointing to new avenues for atherosclerosis (AS) prevention...

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Article

13 Citations

7,364 Views

13 Pages

Cardiovascular Characteristics of Patients with Genetic Variation in Desmoplakin (DSP)

Nosheen Reza,
Alejandro de Feria,
Jessica L. Chowns,
Lily Hoffman-Andrews,
Laura Vann,
Jessica Kim,
Amy Marzolf and
Anjali Tiku Owens

Cardiogenetics2022, 12(1), 24-36;https://doi.org/10.3390/cardiogenetics12010003

6 January 2022

Background: Variants in the desmoplakin (DSP) gene have been recognized in association with the pathogenesis of arrhythmogenic right ventricular cardiomyopathy (ARVC) for nearly 20 years. More recently, genetic variation in DSP has also been associat...

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Article

3 Citations

4,221 Views

11 Pages

Transthyretin Gene Variants and Associated Phenotypes in Danish Patients with Amyloid Cardiomyopathy

Torsten B. Rasmussen,
Bertil T. Ladefoged,
Anne M. Dybro,
Tor S. Clemmensen,
Rikke H. Sørensen,
Astrid J. Terkelsen,
Henning Mølgaard,
Henrik Vase and
Steen H. Poulsen

Cardiogenetics2022, 12(1), 1-11;https://doi.org/10.3390/cardiogenetics12010001

4 January 2022

Genotyping divides transthyretin cardiac amyloidosis (ATTR-CA) in hereditary (ATTRv) and wild type (ATTRwt) forms. This study investigated the prevalence and clinical presentation of ATTRv in a contemporary cohort of consecutive ATTR-CA patients diag...

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Cardiogenetics - ISSN 2035-8148|Creative Common CC BY license

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