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Updated: Feb 2, 2026

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Published on: October 20, 2023
Mitochondrial DNA haplogroups influence the risk of aortic stenosis
Maria E Serrano-Teruel1, Maria Garcia-Vieites1,2, Ignacio Rego-Perez3
11 Congenital & Structural Heart Disease, A Coruña Biomedical Research Institute (INIBIC) A Coruña, Spain.
Aim:
The underlying pathophysiologic mechanisms of aortic stenosis are not clear. Mitochondrial dysfunction plays a role in many pathological conditions including cardiac diseases. We aimed to analyze the mitochondrial DNA haplogroups in a group of patients undergoing valve replacement surgery due to severe aortic stenosis.
Methods:
Mitochondrial DNA haplogroups were assessed in 176 patients with severe aortic stenosis and 308 control subjects. Cardiovascular risk factors and demographics were similar in both groups.
Results:
Patients carrying haplogroup Uk had a lower risk of developing aortic stenosis, especially compared to patients carrying haplogroup H (odds ratio = 0.507; 95% confidence interval: 0.270-0.952, p = 0.035).
Conclusions:
Mitochondrial DNA haplogroups could be involved in the development of severe aortic stenosis. Specifically, haplogroup H could be a risk factor and Uk a protective factor for severe aortic stenosis in a population from Spain.
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