Genetics articles within Nature Reviews Cardiology

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  • Research Highlight |

    The metabolic maturation of mammalian cardiomyocytes that occurs during the early postnatal period shapes the epigenetic landscape of cardiomyocytes and creates a barrier for cell division, but reversing this remodelling process can restore the reparative capacity of the heart in mice, according to a study published in Nature.

    • Irene Fernández-Ruiz

  • Review Article |

    Calcific aortic valve disease (CAVD) is a common disorder characterized by thickening, fibrosis and mineralization of the aortic valve leaflets. In this Review, Mathieu and colleagues summarize the risk factors, genetics and molecular mechanisms involved in CAVD and the implications for treatment of the condition.

    • Louis-Hippolyte Minvielle Moncla
    • , Mewen Briend
    •  & Patrick Mathieu

  • Review Article |

    Numerous new CRISPR-based genome-editing tools have expanded the application of genome editing to include gene-expression control, epigenome editing, RNA editing and live-cell imaging. In this Review, Wu and colleagues describe how these novel CRISPR tools are used to investigate biological processes and disease pathophysiology for cardiovascular research and medicine.

    • Masataka Nishiga
    • , Chun Liu
    •  & Joseph C. Wu

  • Review Article |

    In this Review, Walsh et al. explore the complex contribution of genes encoding non-sarcomeric proteins that are robustly associated with non-syndromic or isolated hypertrophic cardiomyopathy to the genetics of cardiomyopathies across the full range of variant classes, from common regulatory variants to complete gene knockouts.

    • Roddy Walsh
    • , Joost A. Offerhaus
    •  & Connie R. Bezzina

  • Comment |

    Atherosclerosis causes myocardial infarction, ischaemic cardiomyopathy, many ischaemic strokes and jeopardized limbs. Despite enormous progress, atherosclerosis has become the major cause of death worldwide. This Comment intertwines clinical and basic advances in atherosclerosis to illustrate their interdependence, which provides a template for a way forwards to conquer the scourge of atherosclerotic cardiovascular disease.

    • Peter Libby

  • Review Article |

    In this Review, Foo and colleagues summarize the benchmark studies that have mapped the role of enhancers in cardiac disease and development, highlight instances in which enhancer-localized genetic variants explain the missing link to cardiac pathogenesis and consider how enhancer targeting might soon be developed for heart disease.

    • Chukwuemeka G. Anene-Nzelu
    • , Mick C. J. Lee
    •  & Roger S. Y. Foo

  • Review Article |

    In this Review, Seidman and colleagues summarize the progress over the past 10 years with regard to genomic discoveries and strategies at the forefront of research on congenital heart disease (CHD), highlighting definitive and candidate genes associated with CHD in humans and the potential of integrating technological advances to gain new insights into the genetic architecture of CHD.

    • Sarah U. Morton
    • , Daniel Quiat
    •  & Christine E. Seidman

  • Comment |

    Genomic data are increasingly being integrated into health care. We propose an outline for structured training in cardiovascular genomics, recognizing the growing need for a cardiovascular genomics subspecialty and cardiovascular subspecialists who incorporate genomics advances to optimize the management of heritable cardiovascular diseases.

    • Maya S. Safarova
    • , Michael J. Ackerman
    •  & Iftikhar J. Kullo

  • Review Article |

    In this Review, Cavallari and colleagues examine the evidence supporting pharmacogenetic testing in cardiovascular medicine, describe guidelines for the use of cardiovascular pharmacogenetics and provide examples of the clinical implementation of genotype-guided therapies.

    • Julio D. Duarte
    •  & Larisa H. Cavallari

  • Review Article |

    In this Review, Holmes and colleagues compare and contrast the use of Mendelian randomization to evaluate potential drug targets versus quantitative traits and explain how genetic epidemiological studies can be used to assess the aetiological roles of biomarkers in disease and to prioritize drug targets, including designing their evaluation in clinical trials.

    • Michael V. Holmes
    • , Tom G. Richardson
    •  & George Davey Smith

  • Review Article |

    In this Review, Padmanabhan and Dominiczak discuss how genomics has transformed our understanding of blood pressure regulation and hypertension, summarizing the current knowledge of blood pressure genomics and highlighting the opportunities and challenges for drug repurposing and pharmacogenomics for the treatment of hypertension.

    • Sandosh Padmanabhan
    •  & Anna F. Dominiczak

  • Review Article |

    Current estimates of the prevalence of hypertrophic, dilated and arrhythmogenic cardiomyopathies are probably conservative because of the overlapping phenotypes, incomplete and age-related expression, and variable penetrance of these conditions. In this Review, McKenna and Judge discuss the clinical and genetic diagnosis of the inherited cardiomyopathies, with the aim of better defining the epidemiology of these diseases.

    • William J. McKenna
    •  & Daniel P. Judge

  • Review Article |

    This Review summarizes the role of transcription factors and epigenetic remodelling in modulating macrophage plasticity, provides an overview of the cooperative action of transcription factors and epigenetic modifiers controlling macrophage activation in the context of atherosclerosis and inflammation, and highlights the therapeutic potential of modulating transcription factor activity.

    • Tatyana Kuznetsova
    • , Koen H. M. Prange
    •  & Menno P. J. de Winther

  • Year in Review |

    Precision cardiology is a vision of a health-care approach that identifies the optimal course of care for each patient. Although precision cardiology is still in its nascent stage, new approaches and methodologies are being developed to achieve this goal and to overcome technical and implementation barriers. In 2018, several high-impact studies made progress in this direction.

    • Natalia Trayanova

  • Research Highlight |

    The polyploidy of mammalian cardiomyocytes is a barrier to heart regeneration, but modification of the cardiomyocyte cell cycle can boost their regenerative potential.

    • Paulina Strzyz

  • Review Article |

    Both the cardiovascular research and clinical communities are ideally positioned to develop and implement precision medicine to achieve more effective prevention and treatment. This Review highlights the advances in modern biomedicine that make possible the precision medicine era, provides current examples of the use of this approach in the cardiovascular field, and defines the goals and barriers to implementation of a precision medicine system.

    • Elliott M. Antman
    •  & Joseph Loscalzo

  • Review Article |

    The underlying genetics of dilated cardiomyopathy are complex, and the condition can be caused by mutations in any one of more than 30 genes. In this Review, Hershberger and colleagues assess the diverse genomics of this condition and how they might intersect with those of the hypertrophic and arrhythmogenic right ventricular forms of cardiomyopathy.

    • Ray E. Hershberger
    • , Dale J. Hedges
    •  & Ana Morales

  • Review Article |

    A key aim of personalized medicine is to optimize the prevention, diagnosis, and treatment of diseases by tailoring them to individual patient characteristics and genetics. In this Review, Henry Völzke and colleagues describe the methodological and statistical features of study design that will allow personalized medicine to be translated from a promising theoretical concept to a clinically beneficial, cost-effective reality in cardiovascular medicine.

    • Henry Völzke
    • , Carsten O. Schmidt
    •  & Heyo K. Kroemer

  • Review Article |

    Abnormalities in the control of intracellular calcium are involved in several forms of inherited arrhythmias. The genetic mutations that cause these abnormalities have generated much research interest in the past decade. Here, Venetucci et al. provide an overview of the structural organization and the function of calcium-handling proteins and describe the mechanisms by which mutations determine the various clinical phenotypes of calcium channelopathies.

    • Luigi Venetucci
    • , Marco Denegri
    •  & Silvia G. Priori

  • Review Article |

    Particular mutations in cardiac potassium channels are known to be arrhythmogenic. In this Review, the authors discuss the genetic basis, diagnosis, risk stratification, and management of patients with various potassium channelopathies, including long and short QT syndromes, Brugada syndrome, and familial atrial fibrillation.

    • John R. Giudicessi
    •  & Michael J. Ackerman

  • Review Article |

    Systems biology harnesses experimental and computational high-throughput techniques to unravel complex biological interactions, such as those between genetic and environmental factors. Drs MacLellan, Wang, and Lusis provide an overview of system-based approaches to cardiovascular diseases and discuss the translational implications of such studies.

    • W. Robb MacLellan
    • , Yibin Wang
    •  & Aldons J. Lusis

  • Review Article |

    Arrhythmogenic cardiomyopathy (AC) is a clinically heterogeneous cardiac disease that is associated with ventricular arrhythmias and sudden cardiac death. The authors discuss the diagnosis and genetic basis of AC, and how disruption of desmosomal crosstalk with the nucleus, gap junctions, and ion channels might underlie the pathophysiology of this condition.

    • Cristina Basso
    • , Barbara Bauce
    •  & Gaetano Thiene

  • Review Article |

    Hypertrophic cardiomyopathy is the most-common form of monogenically inherited heart disease, and is associated with a high incidence of sudden cardiac death in young patients. The authors review the genetic mutations known to cause the disease, discuss potential pathological mechanisms that might lead to the clinical phenotype, and consider the implications for targeted therapies.

    • Norbert Frey
    • , Mark Luedde
    •  & Hugo A. Katus

  • Review Article |

    Evidence is increasing that genetic variation between patients underlies the considerable variability in their response to antiplatelet agents, and, therefore, in clinical outcomes. Drs Ahmad, Voora, and Becker review the genetic loci that seem to have a role in determining platelet response; genes that are involved in the absorption, metabolic activation, and biological activity of aspirin and clopidogrel. Finally, they discuss, in the context of ongoing clinical trials, the merits and potential dangers of using commercial genetic testing and pharmacogenetics to personalize antiplatelet therapy to individual patients.

    • Tariq Ahmad
    • , Deepak Voora
    •  & Richard C. Becker

  • Review Article |

    Pathological arterial thrombosis represents the most-frequent cause of death worldwide. Dr. Lippi and colleagues explain the molecular and cellular mechanisms involved in atherothrombosis, and discuss genetic and acquired risk factors associated with this condition.

    • Giuseppe Lippi
    • , Massimo Franchini
    •  & Giovanni Targher

  • Review Article |

    Genetic testing is an attractive tool for CHD risk prediction; however, the process of harnessing genetic information to improve population health is in its infancy. In this article, Dr Holmes and colleagues discuss the numerous challenges faced by researchers and clinicians, and suggest a change of focus to better exploit the opportunities offered by the unique properties of genetic information.

    • Michael V. Holmes
    • , Seamus Harrison
    •  & Steve E. Humphries

  • Review Article |

    Epigenetic modifications, such as DNA methylation and histone acetylation, are crucial for homeostasis, and enable cells to respond quickly to environmental changes. However, epigenetic alterations are also associated with the development and progression of disease. The authors of this Review outline how epigenetics may contribute to cardiovascular disease, and highlight potential therapeutic agents that modify the epigenetic state, which could be used in the prevention or treatment of cardiovascular disease.

    • José M. Ordovás
    •  & Caren E. Smith

  • Review Article |

    Diagnosis of hereditary transthyretin-related amyloidosis (ATTR) is challenging owing to its extremely heterogeneous phenotype. The existence of predominantly cardiac presentations should prompt cardiologists to consider ATTR in patients with otherwise unexplained left ventricular wall thickening. Orthotopic liver transplantation (or combined heart–liver transplantation) can potentially provide surgical 'gene therapy' in patients with ATTR, provided that diagnosis is timely.

    • Claudio Rapezzi
    • , Candida Cristina Quarta
    •  & Angelo Branzi

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