Cardiology Department, AP-HP, Cochin Hospital, FILNEMUS, Centre de Référence de Pathologie Neuromusculaire Nord/Est/Ile de France, Paris, France.
Université Paris Descartes-Sorbonne Paris Cité, Paris, France.
J Inherit Metab Dis. 2020 May;43(3):478-485. doi: 10.1002/jimd.12195. Epub 2019 Dec 15.
The prevalence of arterial hypertension in mitochondrial diseases remains unknown. Between January 2000 and May 2014, we retrospectively included patients with genetically proven mitochondrial diseases. We recorded clinical, genetic and cardiac exploration data, including the measure of arterial pressure. Among the 260 patients included in the study (mean age = 44 ± 15 years, women = 158), 108 (41.5%) presented with arterial hypertension. The prevalence of hypertension by sex and age was higher than that observed in the general population for all groups. The prevalence of hypertension was significantly higher in patients with MELAS (mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes) mutations (66%) and MERRF (myoclonus, epilepsy, ataxia with ragged ref fibres) mutations (61%). In patients with MELAS mutation, the presence of hypertension was significantly associated with age and mutation rate in the blood (odds ratio = 1.12; P = .02) in multivariate analysis. The prevalence of hypertension was more important in patients having a mitochondrial disease. The increased risk was more important in patient with MELAS or MERRF and depended on the rate of heteroplasmy.
线粒体疾病中动脉高血压的患病率尚不清楚。2000 年 1 月至 2014 年 5 月，我们回顾性地纳入了经基因证实的线粒体疾病患者。我们记录了临床、遗传和心脏探索数据，包括动脉压测量。在研究中纳入的 260 例患者（平均年龄=44±15 岁，女性=158）中，有 108 例（41.5%）存在动脉高血压。所有组中，男女的高血压患病率均高于一般人群。MELAS（线粒体脑肌病、乳酸酸中毒和卒中样发作）突变（66%）和 MERRF（肌阵挛、癫痫、共济失调伴破碎红纤维）突变（61%）患者的高血压患病率显著更高。在 MELAS 突变患者中，多变量分析显示，高血压的存在与年龄和血液中的突变率显著相关（比值比=1.12；P=.02）。患有线粒体疾病的患者中高血压的患病率更高。风险增加在 MELAS 或 MERRF 患者中更为重要，并且取决于异质率。
