Cardiac manifestations of mitochondrial diseases;Manifestations cardiaques des cytopathies mitochondriales

Presse Medicale

Volumn 44, Issue 5, 2015, Pages 492-497

  Ritzenthaler, Thomas ^a   Luis, David ^a   Hullin, Thomas ^a   Fayssoil, Abdallah ^a  

^a RAYMOND POINCARÉ HOSPITAL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

CARDIAC AGENT; CELL NUCLEUS DNA; MITOCHONDRIAL DNA;

DISORDERS OF MITOCHONDRIAL FUNCTIONS; HEART DISEASE; HEART MUSCLE CONTRACTILITY; HUMAN; PACEMAKER IMPLANTATION; PROGNOSIS; SHORT SURVEY; TREATMENT INDICATION; COMPLICATION; ENERGY METABOLISM; GENETIC COUNSELING; GENETICS; HEART DISEASES; MITOCHONDRIAL DISEASES; MUTATION;

DNA, MITOCHONDRIAL; ENERGY METABOLISM; GENETIC COUNSELING; HEART DISEASES; HUMANS; MITOCHONDRIAL DISEASES; MUTATION;

EID: 84930378027     PISSN: 07554982     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.lpm.2015.01.008     Document Type: Short Survey

References (33)

1. Chinnery P.F., Turnbull D.M. Epidemiology and treatment of mitochondrial disorders. Am J Med Genet 2001, 106:94-101.
2. DiMauro S., Schon E.A. Mitochondrial respiratory-chain diseases. N Engl J Med 2003, 348:2656-2668.
3. Bates M.G.D., Bourke J.P., Giordano C., D' Amati G., Turnbull D.M., Taylor R.W. Cardiac involvement in mitochondrial DNA disease: clinical spectrum, diagnosis, and management. Eur Heart J 2012, 33:3023-3033.
4. Wikström M., Krab K., Saraste M. Proton-translocating cytochrome complexes. Annu Rev Biochem 1981, 50:623-655.
5. Chinnery P.F., Turnbull D.M. Mitochondrial DNA mutations in the pathogenesis of human disease. Mol Med Today 2000, 6:425-432.
6. Bernier F.P., Boneh A., Dennett X., Chow C.W., Cleary M.A., Thorburn D.R. Diagnostic criteria for respiratory chain disorders in adults and children. Neurology 2002, 59:1406-1411.
7. Schmiedel J., Jackson S., Schäfer J., Reichmann H. Mitochondrial cytopathies. J Neurol 2003, 250:267-277.
8. Finsterer J., Harbo H.F., Baets J., Van Broeckhoven C., Di Donato S., Fontaine B., et al. EFNS guidelines on the molecular diagnosis of mitochondrial disorders. Eur J Neurol 2009, 16:1255-1264.
9. Finsterer J. Overview on visceral manifestations of mitochondrial disorders. Neth J Med 2006, 64:61-71.
10. Scaglia F., Towbin J.A., Craigen W.J., Belmont J.W., Smith E.O., Neish S.R., et al. Clinical spectrum, morbidity, and mortality in 113pediatric patients with mitochondrial disease. Pediatrics 2004, 114:925-931.
11. Holmgren D., Wåhlander H., Eriksson B.O., Oldfors A., Holme E., Tulinius M. Cardiomyopathy in children with mitochondrial disease; clinical course and cardiological findings. Eur Heart J 2003, 24:280-288.
12. Limongelli G., Tome-Esteban M., Dejthevaporn C., Rahman S., Hanna M.G., Elliott P.M. Prevalence and natural history of heart disease in adults with primary mitochondrial respiratory chain disease. Eur J Heart Fail 2010, 12:114-121.
13. van Beynum I., Morava E., Taher M., Rodenburg R.J., Karteszi J., Toth K., et al. Cardiac arrest in kearns-sayre syndrome. JIMD Rep 2012, 2:7-10.
14. Sebastiani M., Giordano C., Nediani C., Travaglini C., Borchi E., Zani M., et al. Induction ofmitochondrial biogenesisis a maladaptive mechanism inmitochondrialcardiomyopathies. J Am Coll Cardiol 2007, 50:1362-1369.
15. Giordano F.J. Oxygen, oxidative stress, hypoxia, and heart failure. J Clin Invest 2005, 115:500-508.
16. Efthimiadis G.K., Pagourelias E.D., Gossios T., Zegkos T. Hypertrophic cardiomyopathy in 2013: current speculations and future perspectives. World J Cardiol 2014, 6:26-37.
17. Anan R., Nakagawa M., Miyata M., Higuchi I., Nakao S., Suehara M., et al. Cardiac involvement in mitochondrial diseases. A study on 17patients with documented mitochondrial DNA defects. Circulation 1995, 91:955-961.
18. Fayssoil A. Heart diseases in mitochondrial encephalomyopathy, lactic acidosis, and stroke syndrome. Congest Heart Fail 2009, 15:284-287.
19. Vydt T.C., de Coo R.F., Soliman O.I., Ten Cate F.J., van Geuns R.J., Vletter W.B., et al. Cardiac involvement in adults with m.3243AGMELASgene mutation. Am J Cardiol 2007, 99:264-269.
20. Seibel P., Degoul F., Bonne G., Romero N., François D., Paturneau-Jouas M., et al. Genetic biochemical and pathophysiological characterization of a familial mitochondrial encephalomyopathy (MERRF). J Neurol Sci 1991, 105:217-224.
21. Ito T., Hattori K., Tanaka M., Sugiyama S., Ozawa T. Mitochondrial cytopathy. Jpn Circ J 1990, 54:1214-1220.
22. Thebault C., Ollivier R., Leurent G., Marcorelles P., Langella B., Donal E. Mitochondriopathy: a rare aetiology of restrictive cardiomyopathy. Eur J Echocardiogr 2008, 9:840-845.
23. Yaplito-Lee J., Weintraub R., Jamsen K., Chow C.W., Thorburn D.R., Boneh A. Cardiac manifestations in oxidative phosphorylation disorders of childhood. J Pediatr 2007, 150:407-411.
24. Young T.J., Shah A.K., Lee M.H., Hayes D.L. Kearns-Sayre syndrome: a case report and review of cardiovascular complications. Pacing Clin Electrophysiol 2005, 28:454-457.
25. Gallastegui J., Hariman R.J., Handler B., Lev M., Bharati S. Cardiac involvement in the Kearns-Sayre syndrome. Am J Cardiol 1987, 60:385-388.
26. Epstein A.E., DiMarco J.P., Ellenbogen K.A., Estes NA3rd, Freedman R.A., Gettes L.S., et al. ACC/AHA/HRS 2008Guidelines for Device-Based Therapy of Cardiac Rhythm Abnormalities: a report of theAmericanCollegeofCardiology/AmericanHeartAssociationTask Forceon Practice Guidelines(WritingCommitteeto Revise the ACC/AHA/NASPE 2002Guideline Update forImplantationof Cardiac Pacemakers and Antiarrhythmia Devices): developed in collaboration with theAmericanAssociationfor Thoracic Surgery and Society of Thoracic Surgeons. Circulation 2008, 117:e350-e408.
27. Sproule D.M., Kaufmann P., Engelstad K., Starc T.J., Hordof A.J., De Vivo D.C. Wolff-Parkinson-White syndrome in patients with MELAS. Arch Neurol 2007, 64:1625-1627.
28. Wahbi K., Larue S., Jardel C., Meune C., Stojkovic T., Ziegler F., et al. Cardiac involvement is frequent in patients with the m.8344A>G mutation of mitochondrial DNA. Neurology 2010, 74:674-677.
29. Ismail T.F., Jabbour A., Gulati A., Mallorie A., Raza S., Cowling T.E., et al. Role of late gadolinium enhancement cardiovascular magnetic resonance in the risk stratification of hypertrophic cardiomyopathy. Heart 2014, 100:1851-1858.
30. Panetta J., Smith L.J., Boneh A. Effect of high-dose vitamins, coenzyme Q and high-fat diet in paediatric patients with mitochondrial diseases. J Inherit Metab Dis 2004, 27:487-498.
31. Finsterer J., Haberler C., Schmiedel J. Deterioration of Kearns-Sayre syndrome following articaine administration for local anesthesia. Clin Neuropharmacol 2005, 28:148-149.
32. Silva M.F., Ruiter J.P., Illst L., Jakobs C., Duran M., De Almeida I.T., et al. Valproate inhibits the mitochondrial pyruvate-driven oxidative phosphorylation in vitro. J Inherit Metab Dis 1997, 20:397-400.
33. Santa K.M. Treatment options for mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome. Pharmacotherapy 2010, 30:1179-1196.