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Updated: May 20, 2026

A Doxorubicin-Induced Murine Model of Dilated Cardiomyopathy In Vivo
Published on: May 16, 2020
Epidemiology of non-ischaemic dilated cardiomyopathy
Noemí Ramos-López1,2,3, Fernando Domínguez1,2,3,4, Juan Pablo Ochoa2,3
1Department of Cardiology, Hospital Universitario Puerta de Hierro Majadahonda, IDIPHISA, Madrid, Spain.
Insights
Dilated cardiomyopathy affects 1 in 220 adults, often linked to genetics. Understanding its complex genetic and environmental factors is key for better heart failure management and public health strategies.
Area of Science:
- Cardiology
- Genetics
- Epidemiology
Background:
- Dilated cardiomyopathy (DCM) is a primary cause of heart failure, heart transplantation, and sudden cardiac death.
- Non-ischaemic DCM prevalence is approximately 1 in 220, with higher rates in men.
- Early or subclinical DCM may be more prevalent than current estimates suggest.
Purpose of the Study:
- To explore the genetic basis and epidemiological landscape of non-ischaemic dilated cardiomyopathy.
- To highlight the complexity of DCM's genetic architecture.
- To emphasize the need for improved understanding for clinical and public health advancements.
Main Methods:
- Review of genetic technologies and their impact on understanding DCM.
- Analysis of epidemiological data, including prevalence estimates from cardiac magnetic resonance imaging.
- Examination of the interplay between genetic, polygenic, and environmental factors.
Main Results:
- Pathogenic variants identified in 30-40% of patients with non-ischaemic DCM.
- DCM exhibits a complex genetic architecture, involving monogenic and polygenic factors.
- Gene-environment interactions significantly modify disease penetrance and phenotype.
Conclusions:
- A comprehensive understanding of DCM genetics and epidemiology is crucial.
- Improved knowledge will aid in refining clinical management and screening protocols.
- This research underscores the importance of integrated approaches for public health strategies related to DCM.
Abstract:
Dilated cardiomyopathy, defined by left ventricular dilatation and systolic dysfunction, is a major cause of heart failure, heart transplantation and sudden cardiac death, especially in young and middle-aged adults. Dilated cardiomyopathy of non-ischaemic aetiology is more common than once thought, with current prevalence estimated at around 1 in 220 based on cardiac magnetic resonance imaging studies, and the prevalence is twice as high in men than in women. However, the true prevalence could be even higher when early or subclinical forms of the disease are considered. Advances in genetic technologies over the past three decades have led to improved understanding of the genetic basis of non-ischaemic dilated cardiomyopathy and the identification of pathogenic variants in 30-40% of patients. The genetic architecture of this disease is complex and heterogeneous. Rather than being a strictly monogenic disorder, dilated cardiomyopathy results from a combination of monogenic and polygenic factors, along with gene-environment interactions as critical modifiers of disease penetrance and phenotype. A deeper understanding of the genetic factors and epidemiological landscape of dilated cardiomyopathy is crucial for improving clinical management and optimizing screening protocols and public health strategies.
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