High risk of severe cardiac adverse events in patients with mitochondrial m.3243A>G mutation

Neurology

Volumn 80, Issue 1, 2013, Pages 100-105

  Malfatti, Edoardo ^a,b   Laforêt, Pascal ^a   Jardel, Claude ^a   Stojkovic, Tanya ^a   Behin, Anthony ^a   Eymard, Bruno ^a   Lombès, Anne ^d   Benmalek, Amria ^a   Bécane, Henri Marc ^a   Berber, Nawal ^a   Meune, Christophe ^c,e   Duboc, Denis ^c,e   Wahbi, Karim ^a,f  

^a PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^b UNIVERSITY OF SIENA   (Italy)

^c Pitié Salpêtrière Hospital ^*  (France)

^d INSTITUT DU CERVEAU ET DE LA MOELLE ÉPINIÈRE   (France)

^e University Sorbonne Paris Cite   (France)

^f SORBONNE UNIVERSITÉ   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ANTITHROMBOCYTIC AGENT; ANTIVITAMIN K; BETA ADRENERGIC RECEPTOR BLOCKING AGENT; CARNITINE; DIPEPTIDYL CARBOXYPEPTIDASE INHIBITOR; DIURETIC AGENT; MITOCHONDRIAL DNA; RIBOFLAVIN; UBIQUINONE;

ADULT; ARTICLE; CARDIOGENIC SHOCK; CARDIOVASCULAR DISEASE; CARDIOVASCULAR RISK; CLINICAL ARTICLE; COGNITIVE DEFECT; DEATH; DISEASE SEVERITY; EPILEPTIC STATE; FEMALE; FOLLOW UP; GASTROINTESTINAL OBSTRUCTION; HEART ATRIUM FIBRILLATION; HEART DEATH; HEART FAILURE; HEART LEFT VENTRICLE HYPERTROPHY; HEART PALPITATION; HEART TRANSPLANTATION; HIGH RISK PATIENT; HOSPITAL ADMISSION; HUMAN; IMPLANTED HEART PACEMAKER; LONG TERM CARE; LUNG EDEMA; MALE; MEDICAL RECORD REVIEW; MELAS SYNDROME; MUTATIONAL ANALYSIS; MYOPATHY; NEUROPATHY; OPHTHALMOPLEGIA; PRIORITY JOURNAL; PROGNOSIS; RESUSCITATION; RETROSPECTIVE STUDY; WOLFF PARKINSON WHITE SYNDROME;

EID: 84873696261     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0b013e31827b1a2f     Document Type: Article

References (28)

1. Ciafaloni E, Ricci E, Shanske S, et al. MELAS: clinical features, biochemistry, and molecular genetics. Ann Neu-rol 1992;31:391-398.
2. Hirano M, Pavlakis SG. Mitochondrial myopathy, encepha-lopathy, lactic acidosis, and strokelike episodes (MELAS): current concepts. J Child Neurol 1994;9:4-13.
3. Goto Y, Nonaka I, Horai S. A new mtDNA mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS). Biochim Biophys Acta 1991;1097:238-240.
4. De Vivo DC, DiMauro S. Mitochondrial defects of brain and muscle. Biol Neonate 1990;58:54-69.
5. De Vivo DC. The expanding clinical spectrum of mito-chondrial diseases. Brain Dev 1993;15:1-22.
6. Goto Y, Nonaka I, Horai S. A mutation in the tRNALeu (UUR) gene associated with the MELAS subgroup of mito-chondrial encephalomyopathies. Nature 1990;348:651-653.
7. Ciafaloni E, Ricci E, Servidei S, et al. Widespread tissue distribution of a tRNALeu(UUR) mutation in the mitochondrial DNA of a patient with MELAS syndrome. Neurology 1991;41:1663-1664.
8. Chinnery PF, Howell N, Lightowlers RN, Turnbull DM. Molecular pathology of MELAS and MERRF: the relationship between mutation load and clinical phenotypes. Brain 1997;120:1713-1721.
9. Chinnery PF, Howell N, Lightowlers RN, Turnbull DM. MELAS and MERRF: the relationship between maternal mutation load and the frequency of clinically affected offspring. Brain 1998;121:1889-1894.
10. Goto Y, Horai S, Matsuoka T, et al. Mitochondrial myopa-thy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS): a correlative study of the clinical features and mito-chondrial DNA mutation. Neurology 1992;42:545-550.
11. Kaufmann P, Engelstad K, Wei Y, et al. Natural history of MELAS associated with mitochondrial DNA m.3243A.G genotype. Neurology 2011;77:1965-1971.
12. Hirano M, Davidson M, DiMauro S. Mitochondria and the heart. Curr Opin Cardiol 2001;16:201-210.
13. Okajima Y, Tanabe Y, Takayanagi M, Aotsuka H. A follow-up study of myocardial involvement in patients with mito-chondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS). Heart 1998;80:292-295.
14. Majamaa-Voltti K, Peuhkurinen K, Kortelainen ML, Hassinen IE, Majamaa K. Cardiac abnormalities in patients with mitochondrial DNA mutation 3243A.G. BMC Car-diovasc Disord 2002;2:12.
15. Majamaa-Voltti KA, Winqvist S, Remes AM, et al. A 3-year clinical follow-up of adult patients with 3243A.G in mito-chondrial DNA. Neurology 2006;66:1470-1475.
16. Wortmann SB, Rodenburg RJ, Backx AP, Schmitt E, Smeitink JA, Morava E. Early cardiac involvement in children carrying the A3243G mtDNA mutation. Acta Paediatr 2007;96:450-451.
17. Vydt TC, de Coo RF, Soliman OI, et al. Cardiac involvement in adults with m.3243A.G MELAS gene mutation. Am J Cardiol 2007;99:264-269.
18. Vilarinho L, Santorelli FM, Rosas MJ, Tavares C, Melo-Pires M, DiMauro S. The mitochondrial A3243G mutation presenting as severe cardiomyopathy. J Med Genet 1997;34:607-609.
19. Sproule DM, Kaufmann P, Engelstad K, Starc TJ, Hordof AJ, De Vivo DC. Wolff-Parkinson-White syndrome in patients with MELAS. Arch Neurol 2007;64:1625-1627.
20. Cheitlin MD, Armstrong WF, Aurigemma GP, et al. ACC/AHA/ASE 2003 guideline update for the clinical application of echocardiography: summary article. J Am Soc Echo-cardiogr 2003;16:1091-1110.
21. Schumann GB, Johnston JL, Weiss MA. Renal epithelial fragments in urine sediment. Acta Cytol 1981;25:147-152.
22. Sternberg D, Chatzoglou E, Laforêt P, et al. Mitochon-drial DNA transfer RNA gene sequence variations in patients with mitochondrial disorders. Brain 2001;124:984-994.
23. Wahbi K, Larue S, Jardel C, et al. Cardiac involvement is frequent in patients with the m.8344A.G mutation of mitochondrial DNA. Neurology 2010;74:674-677.
24. Auré K, Ogier de Baulny H, Laforêt P, Jardel C, Eymard B, Lombès A. Chronic progressive ophthalmoplegia with largescale mtDNA rearrangement: can we predict progression? Brain 2007;130:1516-1524.
25. Momiyama Y, Suzuki Y, Ohsuzu F, Atsumi Y, Matsuoka K, Kimura M. Left ventricular hypertrophy and diastolic dys function in mitochondrial diabetes. Diabetes Care 2001;24:604-605.
26. Verdecchia P, Porcellati C, Reboldi G, et al. Left ventricular hypertrophy as an independent predictor of acute cerebrovascular events in essential hypertension. Circulation 2001;104:2039-2044.
27. Sato W, Tanaka M, Sugiyama S, et al. Cardiomyopathy and angiopathy in patients with mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes. Am Heart J 1994;128:733-741.
28. Rask-Madsen C, King GL. Mechanisms of disease: endothelial dysfunction in insulin resistance and diabetes. Nat Clin Pract Endocrinol Metab 2007;3:46-56.