Cardiac involvement is frequent in patients with the m.8344A>G mutation of mitochondrial DNA

Neurology

Volumn 74, Issue 8, 2010, Pages 674-677

  Wahbi, K ^a   Larue, S ^a   Jardel, C ^a,b   Meune, C ^c   Stojkovic, T ^a   Ziegler, F ^d   Lombes A ^a   Eymard, B ^a   Duboc, D ^c   Laforet P ^a  

^a PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^b Biochemistry   (France)

^c Institut Cochin   (France)

^d Belfort Hospital   (France)

Author keywords

[No Author keywords available]

Indexed keywords

MITOCHONDRIAL DNA;

ADULT; ARTICLE; CLINICAL ARTICLE; CONGESTIVE CARDIOMYOPATHY; CONTROLLED STUDY; ECHOCARDIOGRAPHY; ELECTROCARDIOGRAM; FEMALE; FOLLOW UP; FORCED EXPIRATORY VOLUME; HEART DISEASE; HEART FAILURE; HEART LEFT VENTRICLE FAILURE; HUMAN; MALE; MUSCLE BIOPSY; MYOCARDIAL DISEASE; NEUROLOGIC EXAMINATION; ONSET AGE; PRIORITY JOURNAL;

EID: 77649105210     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0b013e3181d0ccf4     Document Type: Article

References (18)

1. Berkovic SF, Carpenter S, Evans A, et al. Myoclonus epilepsy and ragged-red fibres (MERRF): a clinical, pathological, biochemical, magnetic resonance spectrographic and positron emission tomographic study. Brain 1989;112: 1231-1260.
2. Hammans SR, Sweeney MG, Brockington M, et al. The mitochondrial DNA transfer RNA Lys A>G (8344) mutation and the syndrome of myoclonic epilepsy with ragged red fibers (MERRF). Brain 1993;116:617-632.
3. 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.
4. Silvestri G, Ciafaloni E, Santorelli FM, et al. Clinical features associated with the A>G transition at nucleotide 8344 of mtDNA ("MERRF mutation"). Neurology 1993; 43:1200-1206.
5. Shoffner JM, Lott MT, Lezza AM, Seibel P, Ballinger SW, Wallace DC. Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNA(Lys) mutation. Cell 1990;61:931-937.
6. Vydt TC, de Coo RF, Soliman OI, et al. Cardiac involvement in adults with m. 3243A>G MELAS gene mutation. AmJ Cardiol 2007;99:264-269.
7. Bhati RS, Sheridan BC, Mill MR, Selzman CH. Heart transplantation for progressive cardiomyopathy as a manifestation of MELAS syndrome. J Heart Lung Transplant 2005;24:2286-2289.
8. Polak PE, Zijlstra F, Roelandt JR. Indications for pacemaker implantation in the Kearns-Sayre syndrome. Eur HeartJ 1989;10:281-282.
9. Roberts NK, Perloff JK, Kark RA. Cardiac conduction in the Kearns-Sayre syndrome (a neuromuscular disorder associated with progressive external ophthalmoplegia and pigmentary retinopathy): report of 2 cases and review of 17 published cases. Am J Cardiol 1979;44:1396-1400.
10. Ozawa M, Goto YI, Sakuta R, Tanno Y, Tsuji S, Nonaka I. The 8,344 mutation in mitochondrial DNA: a comparison between the proportion of mutant DNA and clinico-pathologic findings. Neuromuscul Disord 1995;5: 483-488.
11. Hirano M, DiMauro S. Clinical features of mitochondrial myopathies and encephalopathies. In: Lane RJM, ed. Handbook of Muscle Disease. New York: Marcel Dekker Inc.; 1996:479-504.
12. 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 Echocardiogr 2003;16:1091-1110.
13. Sternberg D, Chatzoglou E, Laforet P, et al. Mitochondrial DNA transfer RNA gene sequence variations in patients with mitochondrial disorders. Brain 2001;124: 984-994.
14. Hirano M, Pavlakis S. Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS): current concepts. J Child Neurol 1994;9:4-13.
15. Hirano M, Davidson M, DiMauro S. Mitochondria and the heart. Curr Opin Cardiol 2001;16:201-210.
16. Santinelli V, Radinovic A, Manguso F, et al. Asymptomatic ventricular preexcitation: a long-term prospective follow-up study of 293 adult patients. Circ Arrhythmia Electrophysiol 2009;2:102-107.
17. 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.
18. Lombes A, Diaz C, Romero NB, Ziegler F, Fardeau M. Analysis of the tissue distribution and inheritance of het-eroplasmic mitochondrial DNA point mutation by denaturing gradient gel electrophoresis in MERRF syndrome. Neuromuscul Disord 1992;2:323-330.