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. 2025 Jan-Dec:31:10760296251328011.
doi: 10.1177/10760296251328011. Epub 2025 Mar 28.

Mendelian Randomization Study on the Associations Between Genetically Predicted Cardiovascular Disease Subtypes and the Risk of Developing Cardiomyopathies

Qiaolin Tang  1 , Xiangzhu Meng  1 , Xiaowen Tu  1 , Jian Zhang  1
Affiliations

Mendelian Randomization Study on the Associations Between Genetically Predicted Cardiovascular Disease Subtypes and the Risk of Developing Cardiomyopathies

Qiaolin Tang et al. Clin Appl Thromb Hemost. 2025 Jan-Dec.

Abstract

Cardiomyopathies are commonly believed to have genetic origins; however, the connection between cardiomyopathies and cardiovascular diseases remains uncertain. Thus, we employed a Mendelian randomization (MR) approach to investigate the potential causal effects of specific cardiovascular disease subtypes on dilated and hypertrophic cardiomyopathies, focusing primarily on a European population. Summary-level data for cardiomyopathies and other cardiovascular diseases were obtained from public genome-wide association studies. Random-effects inverse-variance weighting was used as the primary analysis, whereas sensitivity analyses, including weighted median, MR-Egger, and multivariable MR methods, were also conducted. A genetic predisposition to atrial fibrillation [odds ratio (OR): 1.33; 95% confidence interval (CI): 1.18-1.50; P < 0.001], heart failure (OR: 3.22; 95% CI: 1.92-5.41; P < 0.001), and hypertension (OR: 1.50; 95% CI: 1.25-1.81; P < 0.001) were causally linked to an increased risk of developing dilated cardiomyopathy. However, there was no direct causal connection between genetically predicted coronary heart disease, pulmonary embolism, or ischemic stroke and the risk of developing dilated cardiomyopathy. In contrast, no significant associations were found between genetically predicted CVD subtypes and the risk of developing hypertrophic cardiomyopathy. Genetically predicted heart failure is significantly associated with the risk of developing dilated cardiomyopathy, underscoring the importance of effective heart failure management for risk prevention. Moreover, individuals with hypertension and atrial fibrillation might have an increased predisposition to dilated cardiomyopathy, highlighting crucial implications for management.

Keywords: cardiovascular disease subtypes; dilated cardiomyopathy; hypertrophic cardiomyopathy; ischemic stroke; mendelian randomization; pulmonary embolism.

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Conflict of interest statement

Conflicting InterestsThe authors declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.

Figures

Figure 1.
Figure 1.
The associations between genetically predicted cardiovascular disease (CVD) subtypes and the risk of developing dilated cardiomyopathy (DCM).
Figure 2.
Figure 2.
The associations between genetically predicted cardiovascular disease (CVD) subtypes and the risk of developing hypertrophic cardiomyopathy (HCM).
See this image and copyright information in PMC

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