Abstract

Objective: Previous research suggests that hypertension is more prevalent among patients with mitochondrial diseases. Blood pressure (BP) is linearly related to increased cardiovascular risk, and this relationship is strongest for systolic blood pressure; nevertheless, studies on systolic and diastolic blood pressure in mitochondrial diseases have not yet been performed. Design and method: In a retrospective case-control study design, BP in mitochondrial disease patients was compared to BP in a population cohort. Secondly, using multiple linear regression, we examined blood pressure differences in various genetic mitochondrial diseases. Lastly, we explored additional predictors of BP in a subgroup with the m.3243A>G variant. Results: 286 genetically confirmed mitochondrial disease patients were included. Of these patients 180 carried the m.3243A>G mitochondrial DNA variant. Systolic BP (SBP) was 9 mmHg higher in female mitochondrial disease patients than in the general female population (95% CI: 4.4 - 13.3 mmHg, p < 0.001), while male patients had similar BP compared to controls. BP was not significantly different in patients with (1) m.8344A>G and m.8363G>A, (2) a mtDNA deletion or (3) a nuclear mutation compared to m.3243A>G patients. Higher SBP was a predictor of left ventricular hypertrophy in the m.3243A>G subgroup (p = 0.04). Conclusions: Novel aspects of the role of mitochondrial dysfunction in blood pressure regulation are exposed in this study. Compared to the general population, female mitochondrial disease patients have a higher SBP. Left ventricular hypertrophy is more prevalent in patients with higher SBP. Clinicians should be aware of this to prevent hypertensive complications in mitochondrial disease patients.

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