Marta Gigli, Davide Stolfo, Marco Merlo, Gianfranco Sinagra, Matthew R. G. Taylor, Luisa Mestroni
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Pathophysiology of dilated cardiomyopathy: from mechanisms to precision medicine
Dilated cardiomyopathy (DCM) is a complex disease with multiple causes and various pathogenic mechanisms. Despite improvements in the prognosis of patients with DCM in the past decade, this condition remains a leading cause of heart failure and premature death. Conventional treatment for DCM is based on the foundational therapies for heart failure with reduced ejection fraction. However, increasingly, attention is being directed towards individualized treatments and precision medicine. The ability to confirm genetic causality is gradually being complemented by an increased understanding of genotype–phenotype correlations. Non-genetic factors also influence the onset of DCM, and growing evidence links genetic background with concomitant non-genetic triggers or precipitating factors, increasing the extreme complexity of the pathophysiology of DCM. This Review covers the spectrum of pathophysiological mechanisms in DCM, from monogenic causes to the coexistence of genetic abnormalities and triggering environmental factors (the ‘two-hit’ hypothesis). The roles of common genetic variants in the general population and of gene modifiers in disease onset and progression are also discussed. Finally, areas for future research are highlighted, particularly novel therapies, such as small molecules, RNA and gene therapy, and measures for the prevention of arrhythmic death.
期刊介绍:
Nature Reviews Cardiology aims to be the go-to source for reviews and commentaries in the scientific and clinical communities it serves. Focused on providing authoritative and accessible articles enriched with clear figures and tables, the journal strives to offer unparalleled service to authors, referees, and readers, maximizing the usefulness and impact of each publication. It covers a broad range of content types, including Research Highlights, Comments, News & Views, Reviews, Consensus Statements, and Perspectives, catering to practising cardiologists and cardiovascular research scientists. Authored by renowned clinicians, academics, and researchers, the content targets readers in the biological and medical sciences, ensuring accessibility across various disciplines. In-depth Reviews offer up-to-date information, while Consensus Statements provide evidence-based recommendations. Perspectives and News & Views present topical discussions and opinions, and the Research Highlights section filters primary research from cardiovascular and general medical journals. As part of the Nature Reviews portfolio, Nature Reviews Cardiology maintains high standards and a wide reach.