A high prevalence of arterial hypertension in patients with mitochondrial diseases.

Szczegóły
Abstrakt

Tytuł:: A high prevalence of arterial hypertension in patients with mitochondrial diseases.
Autorzy:: Chong-Nguyen C; 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.; AP-HP, Pitié-Salpêtrière Hospital, Reference Center for Muscle Diseases Paris-Est, Myology Institute, Paris, France.
Stalens C; Paris Cardiovascular Research Centre (Inserm U970), Paris, France.; Medical Affairs Department, AFM-Telethon, Paris, France.
Goursot Y; 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.; AP-HP, Pitié-Salpêtrière Hospital, Reference Center for Muscle Diseases Paris-Est, Myology Institute, Paris, France.
Bougouin W; Université Paris Descartes-Sorbonne Paris Cité, Paris, France.; Medical Intensive Care Unit, AP-HP, Cochin Hospital, Paris, France.; Paris Cardiovascular Research Centre (PARCC), INSERM Unit 970, Paris, France.
Stojkovic T; AP-HP, Pitié-Salpêtrière Hospital, Reference Center for Muscle Diseases Paris-Est, Myology Institute, Paris, France.
Béhin A; AP-HP, Pitié-Salpêtrière Hospital, Reference Center for Muscle Diseases Paris-Est, Myology Institute, Paris, France.
Mochel F; Pierre et Marie Curie-Paris 6 University, Myology Institute, Pitié-Salpêtrière Hospital, Paris, France.; Genetics Department, INSERM UMR S975, CNRS UMR7225, ICM, AP-HP, Pitié-Salpêtrière Hospital, Paris, France.
Berber N; AP-HP, Pitié-Salpêtrière Hospital, Reference Center for Muscle Diseases Paris-Est, Myology Institute, Paris, France.
Eymard B; AP-HP, Pitié-Salpêtrière Hospital, Reference Center for Muscle Diseases Paris-Est, Myology Institute, Paris, France.; Pierre et Marie Curie-Paris 6 University, Myology Institute, Pitié-Salpêtrière Hospital, Paris, France.
Duboc D; 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.; INSERM Unit 970, Paris Cardiovascular Research Centre (PARCC), Paris, France.
Laforêt P; AP-HP, Pitié-Salpêtrière Hospital, Reference Center for Muscle Diseases Paris-Est, Myology Institute, Paris, France.; Pierre et Marie Curie-Paris 6 University, Myology Institute, Pitié-Salpêtrière Hospital, Paris, France.
Wahbi K; 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.; INSERM Unit 970, Paris Cardiovascular Research Centre (PARCC), Paris, France.
Źródło:: Journal of inherited metabolic disease [J Inherit Metab Dis] 2020 May; Vol. 43 (3), pp. 478-485. Date of Electronic Publication: 2019 Dec 15.
Typ publikacji:: Journal Article; Multicenter Study
Język:: English
Imprint Name(s):: Publication: 2019- : [Hoboken, NJ] : Wiley
Original Publication: [Lancaster, Eng.] MTP Press.
MeSH Terms:: Hypertension/*epidemiology
MELAS Syndrome/*complications
MERRF Syndrome/*complications
Adult ; DNA, Mitochondrial/genetics ; Female ; France/epidemiology ; Humans ; Logistic Models ; MELAS Syndrome/genetics ; MERRF Syndrome/genetics ; Male ; Middle Aged ; Mutation ; Prevalence ; Retrospective Studies
References:: Elliott HR, Samuels DC, Eden JA, Relton CL, Chinnery PF. Pathogenic mitochondrial DNA mutations are common in the general population. Am J Hum Genet. 2008;83:254-260.
DiMauro S, Schon EA. Mitochondrial respiratory-chain diseases. N Engl J Med. 2003;348:2656-2668.
Wahbi K, Bougouin W, Béhin A, et al. Long-term cardiac prognosis and risk stratification in 260 adults presenting with mitochondrial diseases. Eur Heart J. 2015;36:2886-2893.
Tuppen HA, Blakely EL, Turnbull DM, Taylor RW. Mitochondrial DNA mutations and human disease. Biochim Biophys Acta. 2010;1797:113-128.
Hannah-Shmouni F, Sirrs S, Mezei MM, Waters PJ, Mattman A. Increased prevalence of hypertension in young adults with high heteroplasmy levels of the MELAS m.3243A>G mutation. JIMD Rep. 2013;12:17-23.
Yang Q, Kim SK, Sun F, et al. Maternal influence on blood pressure suggests involvement of mitochondrial DNA in the pathogenesis of hypertension: the Framingham heart study. J Hypertens. 2007;25:2067-2073.
Williams B, Mancia G, Spiering W, et al. 2018 ESC/ESH guidelines for the management of arterial hypertension. Eur Heart J. 2018;39(33):3021-3104.
Surawicz B, Childers R, Deal BJ, et al. AHA/ACCF/HRS recommendations for the standardization and interpretation of the electrocardiogram: part III: intraventricular conduction disturbances: a scientific statement from the American Heart Association Electrocardiography and Arrhythmias Committee, Council on Clinical Cardiology; the American College of Cardiology Foundation; and the Heart Rhythm Society. Endorsed by the International Society for Computerized Electrocardiology. J Am Coll Cardiol. 2009;53:976-981.
Lang RM, Badano LP, Mor-Avi V, et al. Recommendations for cardiac chamber quantification by echocardiography in adults: an update from the American Society of Echocardiography and the European Association of Cardiovascular Imaging. Eur Heart J Cardiovasc Imaging. 2015;16(3):233-270.
Perrine AL, Lecoffre C, Blacher J, Olié V. L'hypertension artérielle en France: prévalence, traitement et contrôle en 2015 et évolution depuis 2006. Behaviour. 2018;10:170-179.
Schwartz F, Duke A, Sun F, Cui J, Manolis A, Gavras H. Mitochondrial genome mutations in hypertensive individuals. Am J Hypertens. 2004;17:629-635.
Yin SL, Lan C, Pei H, Zhu ZQ. Mitochondrial transfer RNA mutations and hypertension. Genet Mol Res. 2015;14:17692-17698.
Zhu HY, Wang SW, Liu L, Li YH, Chen R, Wang L. A mitochondrial mutation A4401G is involved in the pathogenesis of left ventricular hypertrophy in Chinese hypertensives. Eur J Hum Genet. 2009;17:172-178.
Xue L, Wang M, Li H, et al. Mitochondrial tRNA mutations in 2070 Chinese Han subjects with hypertension. Mitochondrion. 2016;30:208-221.
Koga Y, Akita Y, Junko N, et al. Endothelial dysfunction in MELAS improved by l-arginine supplementation. Neurology. 2006;66:1766-1769.
Dong JY, Qin LQ, Zhang Z, et al. Effect of oral l-arginine supplementation on blood pressure: a meta-analysis of randomized, double-blind, placebo-controlled trials. Am Heart J. 2011;162:959-965.
Madamanchi NR, Runge MS. Mitochondrial dysfunction in atherosclerosis. Circ Res. 2007;100:460-473.
Chow J, Rahman J, Achermann JC, Dattani MT, Rahman S. Mitochondrial disease and endocrine dysfunction. Nat Rev Endocrinol. 2017;13(2):92-104.
DeStefano AL, Gavras H, Heard-Costa N, et al. Maternal component in the familial aggregation of hypertension. Clin Genet. 2001;60:13-21.
Contributed Indexing:: Keywords: MELAS; arterial hypertension; genetic cardiac disease; mitochondrial diseases
Substance Nomenclature:: 0 (DNA, Mitochondrial)
Entry Date(s):: Date Created: 20191126 Date Completed: 20210823 Latest Revision: 20210823
Update Code:: 20240104
DOI:: 10.1002/jimd.12195
PMID:: 31762033
: Czasopismo naukowe

Full Text Finder

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.
(© 2019 SSIEM.)

Informacja