Impaired myocardial perfusion reserve and fibrosis in Friedreich ataxia: A mitochondrial cardiomyopathy with metabolic syndrome

European Heart Journal

Volumn 32, Issue 5, 2011, Pages 561-567

  Raman, Subha V ^a   Phatak, Kavita ^a   Hoyle, J Chad ^a   Pennell, Michael L ^a   McCarthy, Beth ^a   Tran, Tam ^a   Prior, Thomas W ^a   Olesik, John W ^a   Lutton, Anthony ^a   Rankin, Chelsea ^b   Kissel, John T ^a   Al Dahhak, Roula ^b  

^a OHIO STATE UNIVERSITY   (United States)

^b NATIONWIDE CHILDREN S HOSPITAL   (United States)

Author keywords

Cardiomyopathy; Magnetic resonance imaging; Metabolic syndrome; Microcirculation

Indexed keywords

IDEBENONE; NICOTINIC ACID;

ADULT; ARTICLE; CARDIAC IMAGING; CARDIOMYOPATHY; CLINICAL ARTICLE; CONTROLLED STUDY; DEMOGRAPHY; ECHOCARDIOGRAPHY; FEMALE; FIBROSIS; FRIEDREICH ATAXIA; GENETIC SCREENING; GENOTYPE; GLOMERULUS FILTRATION RATE; HEART LEFT VENTRICLE EJECTION FRACTION; HEART MUSCLE PERFUSION; HUMAN; HYPERTRIGLYCERIDEMIA; IMAGE ANALYSIS; IRON OVERLOAD; MALE; MORTALITY; NUCLEAR MAGNETIC RESONANCE IMAGING; POINT MUTATION; PRIORITY JOURNAL; SEROLOGY;

ADULT; BLOOD PLATELETS; CARDIOMYOPATHIES; CASE-CONTROL STUDIES; CORONARY CIRCULATION; FIBROSIS; FRIEDREICH ATAXIA; HUMANS; IRON; MAGNETIC RESONANCE ANGIOGRAPHY; MICROCIRCULATION; MIDDLE AGED; MYOCARDIUM; STROKE VOLUME; VENTRICULAR DYSFUNCTION, LEFT; YOUNG ADULT;

EID: 79952336350     PISSN: 0195668X     EISSN: 15229645     Source Type: Journal    
DOI: 10.1093/eurheartj/ehq443     Document Type: Article

References (37)

1. Ropper AH, Samuels MA. Adams and Victor's Principles of Neurology, 9th Edition, USA: The McGraw-Hill Companies, Inc., 2009.
2. Child JS, Perloff JK, Bach PM, Wolfe AD, Perlman S, Kark RA. Cardiac involvement in Friedreich's ataxia: a clinical study of 75 patients. J Am Coll Cardiol. 1986;7: 1370-1378. (Pubitemid 16100362)
3. Meyer C, Schmid G, Gorlitz S, Ernst M, Wilkens C, Wilhelms I, Kraus PH, Bauer P, Tomiuk J, Przuntek H, Mugge A, Schols L. Cardiomyopathy in Friedreich's ataxia-assessment by cardiac MRI. Mov Disord 2007;22:1615-1622. (Pubitemid 47477924)
4. Delatycki MB, Williamson R, Forrest SM. Friedreich ataxia: an overview. J Med Genet. 2000;37:1-8. (Pubitemid 30245868)
5. Pandolfo M. Friedreich ataxia. Arch Neurol 2008;65:1296-1303.
6. Campuzano V, Montermini L, Molto MD, Pianese L, Cossee M, Cavalcanti F, Monros E, Rodius F, Duclos F, Monticelli A, Zara F, Canizares J, Koutnikova H, Bidichandani SI, Gellera C, Brice A, Trouillas P, De Michele G, Filla A, De Frutos R, Palau F, Patel PI, Di Donato S, Mandel JL, Cocozza S, Koenig M, Pandolfo M. Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Science 1996;271:1423-1427. (Pubitemid 26089479)
7. Bradley JL, Blake JC, Chamberlain S, Thomas PK, Cooper JM, Schapira AH. Clinical, biochemical and molecular genetic correlations in Friedreich's ataxia. Hum Mol Genet 2000;9:275-282. (Pubitemid 30052751)
8. Di Prospero NA, Sumner CJ, Penzak SR, Ravina B, Fischbeck KH, Taylor JP. Safety, tolerability, and pharmacokinetics of high-dose idebenone in patients with Frie-dreich ataxia. Arch Neurol 2007;64:803-808. (Pubitemid 46919834)
9. Schols L, Vorgerd M, Schillings M, Skipka G, Zange J. Idebenone in patients with Friedreich ataxia. Neurosci Lett 2001;306:169-172. (Pubitemid 32530826)
10. Seznec H, Simon D, Monassier L, Criqui-Filipe P, Gansmuller A, Rustin P, Koenig M, Puccio H. Idebenone delays the onset of cardiac functional alteration without correction of Fe-S enzymes deficit in a mouse model for Friedreich ataxia. Hum Mol Genet 2004;13:1017-1024. (Pubitemid 38702188)
11. Ribai P, Pousset F, Tanguy ML, Rivaud-Pechoux S, Le Ber I, Gasparini F, Charles P, Beraud AS, Schmitt M, Koenig M, Mallet A, Brice A, Durr A. Neurological, cardi-ological, and oculomotor progression in 104 patients with Friedreich ataxia during long-term follow-up. Arch Neurol 2007;64:558-564. (Pubitemid 46588346)
12. Rinaldi C, Tucci T, Maione S, Giunta A, De Michele G, Filla A. Low-dose idebe-none treatment in Friedreich's ataxia with and without cardiac hypertrophy. J Neurol 2009;256:1434-1437.
13. Delatycki MB. Evaluating the progression of Friedreich ataxia and its treatment. J Neurol 2009;256 (Suppl. 1):36-41.
14. Subramony SH, May W, Lynch D, Gomez C, Fischbeck K, Hallett M, Taylor P, Wilson R, Ashizawa T. Measuring Friedreich ataxia: interrater reliability of a neurologic rating scale. Neurology 2005;64:1261-1262.
15. Lynch DR, Farmer JM, Tsou AY, Perlman S, Subramony SH, Gomez CM, Ashizawa T, Wilmot GR, Wilson RB, Balcer LJ. Measuring Friedreich ataxia: complementary features of examination and performance measures. Neurology 2006; 66:1711-1716. (Pubitemid 43964627)
16. Alberti KGMM, Eckel RH, Grundy SM, Zimmet PZ, Cleeman JI, Donato KA, Fruchart J-C, James WPT, Loria CM, Smith SC Jr. Harmonizing the metabolic syndrome: a joint interim statement of the International Diabetes Federation Task Force on Epidemiology and Prevention; National Heart, Lung, and Blood Institute; American Heart Association; World Heart Federation; International Atherosclerosis Society; and International Association for the Study of Obesity. Circulation 2009;120:1640-1645.
17. Calle EE, Thun MJ, Petrelli JM, Rodriguez C, Heath CW Jr. Body-mass index and mortality in a prospective cohort of U.S. adults. N Engl J Med 1999;341: 1097-1105. (Pubitemid 29466221)
18. Durr A, Cossee M, Agid Y, Campuzano V, Mignard C, Penet C, Mandel JL, Brice A, Koenig M. Clinical and genetic abnormalities in patients with Friedreich's ataxia. N Engl J Med 1996;335:1169-1175. (Pubitemid 26339770)
19. Klem I, Heitner JF, Shah DJ, Sketch MH Jr, Behar V, Weinsaft J, Cawley P, Parker M, Elliott M, Judd RM, Kim RJ. Improved detection of coronary artery disease by stress perfusion cardiovascular magnetic resonance with the use of delayed enhancement infarction imaging. J Am Coll Cardiol 2006;47:1630-1638.
20. Kim RJ, Shah DJ, Judd RM. How we perform delayed enhancement imaging. J Cardiovasc Magn Reson 2003;5:505-514. (Pubitemid 36859434)
21. Maceira AM, Prasad SK, Khan M, Pennell DJ. Normalized left ventricular systolic and diastolic function by steady state free precession cardiovascular magnetic resonance. J Cardiovasc Magn Reson 2006;8:417-426.
22. Velagaleti RS, Gona P, Levy D, Aragam J, Larson MG, Tofler GH, Lieb W, Wang TJ, Benjamin EJ, Vasan RS. Relations of biomarkers representing distinct biological pathways to left ventricular geometry. Circulation 2008;118: 2252-2258, 2255p following 2258.
23. Raman SV, Simonetti OP, Cataland SR, Kraut EH. Myocardial ischemia and right ventricular dysfunction in adult patients with sickle cell disease. Haematologica 2006;91:1329-1335. (Pubitemid 44569805)
24. Cook SC, Ferketich AK, Raman SV. Myocardial ischemia in asymptomatic adults with repaired aortic coarctation. Int J Cardiol 2009;133:95-101.
25. Cerqueira MD, Weissman NJ, Dilsizian V, Jacobs AK, Kaul S, Laskey WK, Pennell DJ, Rumberger JA, Ryan T, Verani MS. Standardized myocardial segmentation and nomenclature for tomographic imaging of the heart: a statement for healthcare professionals from the Cardiac Imaging Committee of the Council on Clinical Cardiology of the American Heart Association. Circulation 2002;105: 539-542. (Pubitemid 34262671)
26. Jakubowski N, Moens L, Vanhaecke F. Sector field mass spectrometers in ICP-MS. Spectrochim Acta Part B At Spectrosc 1998;53:1739-1763.
27. Bartolo C, Mendell JR, Prior TW. Identification of a missense mutation in a Friedreich's ataxia patient: implications for diagnosis and carrier studies. Am J Med Genet 1998;79:396-399. (Pubitemid 28445453)
28. Forrest SM, Knight M, Delatycki MB, Paris D, Williamson R, King J, Yeung L, Nassif N, Nicholson GA. The correlation of clinical phenotype in Friedreich ataxia with the site of point mutations in the FRDA gene. Neurogenetics 1998;1:253-257. (Pubitemid 128685081)
29. Liu Y, Zhao H, Li H, Kalyanaraman B, Nicolosi AC, Gutterman DD. Mitochondrial sources of H2O2 generation play a key role in flow-mediated dilation in human coronary resistance arteries. Circ Res 2003;93:573-580. (Pubitemid 37163238)
30. Coppola G, Marmolino D, Lu D, Wang Q, Cnop M, Rai M, Acquaviva F, Cocozza S, Pandolfo M, Geschwind DH. Functional genomic analysis of frataxin deficiency reveals tissue-specific alterations and identifies the PPARgamma pathway as a therapeutic target in Friedreich's ataxia. Hum Mol Genet 2009;18: 2452-2461.
31. Czernichow S, Greenfield JR, Galan P, Jellouli F, Safar ME, Blacher J, Hercberg S, Levy BI. Macrovascular and microvascular dysfunction in the metabolic syndrome. Hypertens Res 2010;33:293-297.
32. Carraway MS, Suliman HB, Madden MC, Piantadosi CA, Ghio AJ. Metabolic capacity regulates iron homeostasis in endothelial cells. Free Radic Biol Med 2006;41:1662-1669. (Pubitemid 44634243)
33. Ingwall JS, Weiss RG. Is the failing heart energy starved? On using chemical energy to support cardiac function. Circ Res 2004;95:135-145. (Pubitemid 38988679)
34. Collins FS. Opportunities for research and NIH. Science 2010;327:36-37.
35. Jiralerspong S, Liu Y, Montermini L, Stifani S, Pandolfo M. Frataxin shows develop-mentally regulated tissue-specific expression in the mouse embryo. Neurobiol Dis 1997;4:103-113. (Pubitemid 27426390)
36. Hunt SA, Abraham WT, Chin MH, Feldman AM, Francis GS, Ganiats TG, Jessup M, Konstam MA, Mancini DM, Michl K, Oates JA, Rahko PS, Silver MA, Stevenson LW, Yancy CW. Focused Update Incorporated Into the ACC/AHA 2005 Guidelines for the Diagnosis and Management of Heart Failure in Adults: A Report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines Developed in Collaboration With the International Society for Heart and Lung Transplantation. J Am Coll Cardiol 2009;53:e1-e90.
37. Dutka DP, Donnelly JE, Palka P, Lange A, Nunez DJ, Nihoyannopoulos P. Echocar-diographic characterization of cardiomyopathy in Friedreich's ataxia with tissue Doppler echocardiographically derived myocardial velocity gradients. Circulation 2000;102:1276-1282.