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Mitochondrial Heart Involvement

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Diagnosis and Management of Mitochondrial Disorders

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Abstract

The human heart is one of those organs most frequently associated with mitochondrial disorders (MID), along with the central nervous system, skeletal muscle, and other internal organs. Heart failure (HF) does not only represent one of the major causes of morbidity and mortality in these patients, but the presence of cardiomyopathy also worsens dramatically their prognosis. An early diagnosis of cardiac disease associated with MID is important for subsequent timely therapeutic interventions. Noninvasive imaging modalities such as cardiovascular magnetic resonance (CMR) allow a detailed and comprehensive work-up of cardiomyopathies and enable a noninvasive and safe diagnosis of the underlying origin also in MID patients today. Unfortunately, causal therapeutic strategies are still lacking for patients with MID and cardiac involvement. Nevertheless, e.g., device therapies can be particularly helpful (and prolong life) in MID patients with arrhythmias—in case of early and timely diagnosis of the underlying cardiac disease.

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References

  1. Finsterer J, Kothari S. Cardiac manifestations of primary mitochondrial disorders. Int J Cardiol. 2014;177(3):754–63.

    Article  PubMed  Google Scholar 

  2. Barends M, Verschuren L, Morava E, Nesbitt V, Turnbull D, McFarland R. Causes of death in adults with mitochondrial disease. JIMD Rep. 2016;26:103–13.

    Article  PubMed  Google Scholar 

  3. Holmgren D, Wahlander H, Eriksson BO, Oldfors A, Holme E, Tulinius M. Cardiomyopathy in children with mitochondrial disease; clinical course and cardiological findings. Eur Heart J. 2003;24(3):280–8.

    Article  CAS  PubMed  Google Scholar 

  4. Malfatti E, Laforet P, Jardel C, Stojkovic T, Behin A, Eymard B, Lombes A, Benmalek A, Becane HM, Berber N, Meune C, Duboc D, Wahbi K. High risk of severe cardiac adverse events in patients with mitochondrial m.3243A>G mutation. Neurology. 2013;80(1):100–5.

    Article  CAS  PubMed  Google Scholar 

  5. Wahbi K, Bougouin W, Behin A, Stojkovic T, Becane HM, Jardel C, Berber N, Mochel F, Lombes A, Eymard B, Duboc D, Laforet P. Long-term cardiac prognosis and risk stratification in 260 adults presenting with mitochondrial diseases. Eur Heart J. 2015;36(42):2886–93.

    Article  PubMed  Google Scholar 

  6. Bates MG, Bourke JP, Giordano C, d’Amati G, Turnbull DM, Taylor RW. Cardiac involvement in mitochondrial DNA disease: clinical spectrum, diagnosis, and management. Eur Heart J. 2012;33(24):3023–33.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  7. Florian A, Ludwig A, Stubbe-Drager B, Boentert M, Young P, Waltenberger J, Rosch S, Sechtem U, Yilmaz A. Characteristic cardiac phenotypes are detected by cardiovascular magnetic resonance in patients with different clinical phenotypes and genotypes of mitochondrial myopathy. J Cardiovasc Magn Reson. 2015;17:40.

    Article  PubMed  PubMed Central  Google Scholar 

  8. Yilmaz A, Gdynia HJ, Ponfick M, Rosch S, Lindner A, Ludolph AC, Sechtem U. Cardiovascular magnetic resonance imaging (CMR) reveals characteristic pattern of myocardial damage in patients with mitochondrial myopathy. Clin Res Cardiol. 2012;101(4):255–61.

    Article  PubMed  Google Scholar 

  9. Towbin JA, Jefferies JL. Cardiomyopathies due to left ventricular noncompaction, mitochondrial and storage diseases, and inborn errors of metabolism. Circ Res. 2017;121(7):838–54.

    Article  CAS  PubMed  Google Scholar 

  10. Lopaschuk GD, Ussher JR, Folmes CD, Jaswal JS, Stanley WC. Myocardial fatty acid metabolism in health and disease. Physiol Rev. 2010;90(1):207–58.

    Article  CAS  PubMed  Google Scholar 

  11. Hsu YH, Yogasundaram H, Parajuli N, Valtuille L, Sergi C, Oudit GY. MELAS syndrome and cardiomyopathy: linking mitochondrial function to heart failure pathogenesis. Heart Fail Rev. 2016;21(1):103–16.

    Article  CAS  PubMed  Google Scholar 

  12. Gurrieri C, Kivela JE, Bojanic K, Gavrilova RH, Flick RP, Sprung J, Weingarten TN. Anesthetic considerations in mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes syndrome: a case series. Can J Anaesth. 2011;58(8):751–63.

    Article  PubMed  Google Scholar 

  13. Jose T, Gdynia HJ, Mahrholdt H, Vohringer M, Klingel K, Kandolf R, Bornemann A, Yilmaz A. CMR gives clue to “ragged red fibers” in the heart in a patient with mitochondrial myopathy. Int J Cardiol. 2011;149(1):e24–7.

    Article  PubMed  Google Scholar 

  14. El-Hattab AW, Scaglia F. Mitochondrial cardiomyopathies. Front Cardiovasc Med. 2016;3:25.

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  15. El-Hattab AW, Scaglia F. Mitochondrial cytopathies. Cell Calcium. 2016;60(3):199–206.

    Article  CAS  PubMed  Google Scholar 

  16. Brunel-Guitton C, Levtova A, Sasarman F. Mitochondrial diseases and cardiomyopathies. Can J Cardiol. 2015;31(11):1360–76.

    Article  PubMed  Google Scholar 

  17. Marin-Garcia J, Goldenthal MJ, Ananthakrishnan R, Pierpont ME. The complete sequence of mtDNA genes in idiopathic dilated cardiomyopathy shows novel missense and tRNA mutations. J Card Fail. 2000;6(4):321–9.

    Article  CAS  PubMed  Google Scholar 

  18. Merante F, Tein I, Benson L, Robinson BH. Maternally inherited hypertrophic cardiomyopathy due to a novel T-to-C transition at nucleotide 9997 in the mitochondrial tRNA(glycine) gene. Am J Hum Genet. 1994;55(3):437–46.

    CAS  PubMed  PubMed Central  Google Scholar 

  19. Santorelli FM, Tanji K, Manta P, Casali C, Krishna S, Hays AP, Mancini DM, DiMauro S, Hirano M. Maternally inherited cardiomyopathy: an atypical presentation of the mtDNA 12S rRNA gene A1555G mutation. Am J Hum Genet. 1999;64(1):295–300.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  20. Shin WS, Tanaka M, Suzuki J, Hemmi C, Toyo-oka T. A novel homoplasmic mutation in mtDNA with a single evolutionary origin as a risk factor for cardiomyopathy. Am J Hum Genet. 2000;67(6):1617–20.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  21. Catteruccia M, Sauchelli D, Della MG, Primiano G, Cuccagna C, Bernardo D, Leo M, Camporeale A, Sanna T, Cianfoni A, Servidei S. "Myo-cardiomyopathy" is commonly associated with the A8344G "MERRF" mutation. J Neurol. 2015;262(3):701–10.

    Article  CAS  PubMed  Google Scholar 

  22. Bregel’ LV, Belozerov I, Ogloblina ML, Golubev SS, Zemchenko OA, Pavlenok KN, Antoshkina EP, Bochkareva AK, Popod’ko TN. [Histiocytoid cardiomyopathy in an infant]. Kardiologiia. 2012;52(7):93–6.

    Google Scholar 

  23. Finsterer J. Histiocytoid cardiomyopathy: a mitochondrial disorder. Clin Cardiol. 2008;31(5):225–7.

    Article  PubMed  PubMed Central  Google Scholar 

  24. Finsterer J, Stollberger C. Is mitochondrial disease the common cause of histiocytoid cardiomyopathy and non-compaction? Int J Legal Med. 2009;123(6):507–8.

    Article  PubMed  Google Scholar 

  25. Bray AW, Ballinger SW. Mitochondrial DNA mutations and cardiovascular disease. Curr Opin Cardiol. 2017. https://doi.org/10.1097/HCO.0000000000000383.

    Article  PubMed  PubMed Central  Google Scholar 

  26. Majamaa-Voltti K, Peuhkurinen K, Kortelainen ML, Hassinen IE, Majamaa K. Cardiac abnormalities in patients with mitochondrial DNA mutation 3243A>G. BMC Cardiovasc Disord. 2002;2:12.

    Article  PubMed  PubMed Central  Google Scholar 

  27. Scaglia F, Towbin JA, Craigen WJ, Belmont JW, Smith EO, Neish SR, Ware SM, Hunter JV, Fernbach SD, Vladutiu GD, Wong LJ, Vogel H. Clinical spectrum, morbidity, and mortality in 113 pediatric patients with mitochondrial disease. Pediatrics. 2004;114(4):925–31.

    Article  PubMed  Google Scholar 

  28. Bates MG, Hollingsworth KG, Newman JH, Jakovljevic DG, Blamire AM, MacGowan GA, Keavney BD, Chinnery PF, Turnbull DM, Taylor RW, Trenell MI, Gorman GS. Concentric hypertrophic remodelling and subendocardial dysfunction in mitochondrial DNA point mutation carriers. Eur Heart J Cardiovasc Imaging. 2013;14(7):650–8.

    Article  PubMed  Google Scholar 

  29. Fayssoil A. Heart diseases in mitochondrial encephalomyopathy, lactic acidosis, and stroke syndrome. Congest Heart Fail. 2009;15(6):284–7.

    Article  CAS  PubMed  Google Scholar 

  30. Limongelli G, Tome-Esteban M, Dejthevaporn C, Rahman S, Hanna MG, Elliott PM. Prevalence and natural history of heart disease in adults with primary mitochondrial respiratory chain disease. Eur J Heart Fail. 2010;12(2):114–21.

    Article  CAS  PubMed  Google Scholar 

  31. Sehgal S, Choudhry S, Debelenko L, L’Ecuyer T. Dilated cardiomyopathy with cardiogenic shock in a child with Kearns-Sayre syndrome. BMJ Case Rep. 2016;16:2016.

    Google Scholar 

  32. Tranchant C, Mousson B, Mohr M, Dumoulin R, Welsch M, Weess C, Stepien G, Warter JM. Cardiac transplantation in an incomplete Kearns-Sayre syndrome with mitochondrial DNA deletion. Neuromuscul Disord. 1993;3(5–6):561–6.

    Article  CAS  PubMed  Google Scholar 

  33. Channer KS, Channer JL, Campbell MJ, Rees JR. Cardiomyopathy in the Kearns-Sayre syndrome. Br Heart J. 1988;59(4):486–90.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  34. Wahbi K, Larue S, Jardel C, Meune C, Stojkovic T, Ziegler F, Lombes A, Eymard B, Duboc D, Laforet P. Cardiac involvement is frequent in patients with the m.8344A>G mutation of mitochondrial DNA. Neurology. 2010;74(8):674–7.

    Article  CAS  PubMed  Google Scholar 

  35. Vallance HD, Jeven G, Wallace DC, Brown MD. A case of sporadic infantile histiocytoid cardiomyopathy caused by the A8344G (MERRF) mitochondrial DNA mutation. Pediatr Cardiol. 2004;25(5):538–40.

    Article  CAS  PubMed  Google Scholar 

  36. Brecht M, Richardson M, Taranath A, Grist S, Thorburn D, Bratkovic D. Leigh syndrome caused by the MT-ND5 m.13513G>A mutation: a case presenting with WPW-like conduction defect, cardiomyopathy, hypertension and Hyponatraemia. JIMD Rep. 2015;19:95–100.

    Article  PubMed  PubMed Central  Google Scholar 

  37. Hadzsiev K, Maasz A, Kisfali P, Kalman E, Gomori E, Pal E, Berenyi E, Komlosi K, Melegh B. Mitochondrial DNA 11777C>A mutation associated Leigh syndrome: case report with a review of the previously described pedigrees. NeuroMolecular Med. 2010;12(3):277–84.

    Article  CAS  PubMed  Google Scholar 

  38. Sofou K, de Coo IFM, Ostergaard E, Isohanni P, Naess K, De ML, Tzoulis C, Uusimaa J, Lonnqvist T, Bindoff LA, Tulinius M, Darin N. Phenotype-genotype correlations in Leigh syndrome: new insights from a multicentre study of 96 patients. J Med Genet. 2018;55(1):21–7.

    Article  CAS  PubMed  Google Scholar 

  39. Thorburn DR, Rahman J, Rahman S. Mitochondrial DNA-associated Leigh syndrome and NARP. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle: University of Washington, 1993–2019. 2003 Oct 30.

    Google Scholar 

  40. Tesarova M, Hansikova H, Hlavata A, Klement P, Houst’kova H, Houstek J, Zeman J. [Variation in manifestations of heteroplasmic mtDNA mutation 8993 T>G in two families]. Cas Lek Cesk. 2002;141(17):551–4.

    Google Scholar 

  41. Ferreira C, Thompson R, Vernon H. Barth syndrome. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle: University of Washington, 1993–2019. 2014 Oct 9.

    Google Scholar 

  42. Clarke SL, Bowron A, Gonzalez IL, Groves SJ, Newbury-Ecob R, Clayton N, Martin RP, Tsai-Goodman B, Garratt V, Ashworth M, Bowen VM, McCurdy KR, Damin MK, Spencer CT, Toth MJ, Kelley RI, Steward CG. Barth syndrome. Orphanet J Rare Dis. 2013;8:23.

    Article  PubMed  PubMed Central  Google Scholar 

  43. Spencer CT, Bryant RM, Day J, Gonzalez IL, Colan SD, Thompson WR, Berthy J, Redfearn SP, Byrne BJ. Cardiac and clinical phenotype in Barth syndrome. Pediatrics. 2006;118(2):e337–46.

    Article  PubMed  Google Scholar 

  44. Roberts AE, Nixon C, Steward CG, Gauvreau K, Maisenbacher M, Fletcher M, Geva J, Byrne BJ, Spencer CT. The Barth syndrome registry: distinguishing disease characteristics and growth data from a longitudinal study. Am J Med Genet A. 2012;158A(11):2726–32.

    Article  PubMed  Google Scholar 

  45. Kang SL, Forsey J, Dudley D, Steward CG, Tsai-Goodman B. Clinical characteristics and outcomes of cardiomyopathy in Barth syndrome: the UK experience. Pediatr Cardiol. 2016;37(1):167–76.

    Article  PubMed  Google Scholar 

  46. Salviati L, Trevisson E, Doimo M, Navas P. Primary coenzyme Q10 deficiency; 1993.

    Google Scholar 

  47. Raman SV, Phatak K, Hoyle JC, Pennell ML, McCarthy B, Tran T, Prior TW, Olesik JW, Lutton A, Rankin C, Kissel JT, Al-Dahhak R. Impaired myocardial perfusion reserve and fibrosis in Friedreich ataxia: a mitochondrial cardiomyopathy with metabolic syndrome. Eur Heart J. 2011;32(5):561–7.

    Article  PubMed  Google Scholar 

  48. Finsterer J, Stollberger C, Keller H. Arrhythmia-related workup in hereditary myopathies. J Electrocardiol. 2012;45(4):376–84.

    Article  PubMed  Google Scholar 

  49. Yaplito-Lee J, Weintraub R, Jamsen K, Chow CW, Thorburn DR, Boneh A. Cardiac manifestations in oxidative phosphorylation disorders of childhood. J Pediatr. 2007;150(4):407–11.

    Article  CAS  PubMed  Google Scholar 

  50. Zhang LH, Fang LG, Cheng ZW, Fang Q. [Cardiac manifestations of patients with mitochondrial disease]. Zhonghua Xin Xue Guan Bing Za Zhi. 2009;37(10):892–5.

    Google Scholar 

  51. Charles R, Holt S, Kay JM, Epstein EJ, Rees JR. Myocardial ultrastructure and the development of atrioventricular block in Kearns-Sayre syndrome. Circulation. 1981;63(1):214–9.

    Article  CAS  PubMed  Google Scholar 

  52. Kabunga P, Lau AK, Phan K, Puranik R, Liang C, Davis RL, Sue CM, Sy RW. Systematic review of cardiac electrical disease in Kearns-Sayre syndrome and mitochondrial cytopathy. Int J Cardiol. 2015;181:303–10.

    Article  PubMed  Google Scholar 

  53. Polak PE, Zijlstra F, Roelandt JR. Indications for pacemaker implantation in the Kearns-Sayre syndrome. Eur Heart J. 1989;10(3):281–2.

    Article  CAS  PubMed  Google Scholar 

  54. Khambatta S, Nguyen DL, Beckman TJ, Wittich CM. Kearns-Sayre syndrome: a case series of 35 adults and children. Int J Gen Med. 2014;7:325–32.

    PubMed  PubMed Central  Google Scholar 

  55. Karanikis P, Korantzopoulos P, Kountouris E, Dimitroula V, Patsouras D, Pappa E, Siogas K. Kearns-Sayre syndrome associated with trifascicular block and QT prolongation. Int J Cardiol. 2005;101(1):147–50.

    Article  PubMed  Google Scholar 

  56. Rashid A, Kim MH. Kearns-Sayre syndrome: association with long QT syndrome? J Cardiovasc Electrophysiol. 2002;13(2):184–5.

    Article  PubMed  Google Scholar 

  57. Reato S, Sparta S, D’Este D. Intraventricular conduction disturbances and paroxysmal atrioventricular block in a young patient with MELAS. J Cardiovasc Med (Hagerstown). 2015;16(Suppl 2):S100–3.

    Article  Google Scholar 

  58. Majamaa-Voltti K, Turkka J, Kortelainen ML, Huikuri H, Majamaa K. Causes of death in pedigrees with the 3243A>G mutation in mitochondrial DNA. J Neurol Neurosurg Psychiatry. 2008;79(2):209–11.

    Article  CAS  PubMed  Google Scholar 

  59. Ng YS, Grady JP, Lax NZ, Bourke JP, Alston CL, Hardy SA, Falkous G, Schaefer AG, Radunovic A, Mohiddin SA, Ralph M, Alhakim A, Taylor RW, McFarland R, Turnbull DM, Gorman GS. Sudden adult death syndrome in m.3243A>G-related mitochondrial disease: an unrecognized clinical entity in young, asymptomatic adults. Eur Heart J. 2016;37(32):2552–9.

    Article  CAS  PubMed  Google Scholar 

  60. DiMauro S, Hirano M, Kaufmann P, Tanji K, Sano M, Shungu DC, Bonilla E, DeVivo DC. Clinical features and genetics of myoclonic epilepsy with ragged red fibers. Adv Neurol. 2002;89:217–29.

    Google Scholar 

  61. Spencer CT, Byrne BJ, Gewitz MH, Wechsler SB, Kao AC, Gerstenfeld EP, Merliss AD, Carboni MP, Bryant RM. Ventricular arrhythmia in the X-linked cardiomyopathy Barth syndrome. Pediatr Cardiol. 2005;26(5):632–7.

    Article  CAS  PubMed  Google Scholar 

  62. Mazurova S, Tesarova M, Magner M, Houstkova H, Hansikova H, Augustinova J, Tomek V, Vondrackova A, Zeman J, Honzik T. Novel mutations in the TAZ gene in patients with Barth syndrome. Prague Med Rep. 2013;114(3):139–53.

    Article  CAS  PubMed  Google Scholar 

  63. Finsterer J, Zarrouk-Mahjoub S. Mitochondrial vasculopathy. World J Cardiol. 2016;8(5):333–9.

    Article  PubMed  PubMed Central  Google Scholar 

  64. Brunetti-Pierri N, Pignatelli R, Fouladi N, Towbin JA, Belmont JW, Craigen WJ, Wong LJ, Jefferies JL, Scaglia F. Dilation of the aortic root in mitochondrial disease patients. Mol Genet Metab. 2011;103(2):167–70.

    Article  CAS  PubMed  Google Scholar 

  65. Finsterer J, Bastovansky A. Dilative Arteriopathy and Leucencephalopathy as manifestations of a neurometabolic disease. Open Neurol J. 2015;9:28–31.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  66. Ryther RC, Cho-Park YA, Lee JW. Carotid dissection in mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes. J Neurol. 2011;258(5):912–4.

    Article  PubMed  Google Scholar 

  67. Mancuso M, Montano V, Orsucci D, Peverelli L, Caputi L, Gambaro P, Siciliano G, Lamperti C. Mitochondrial m.3243A>G mutation and carotid artery dissection. Mol Genet Metab Rep. 2016;9:12–4.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  68. Tay SH, Nordli DR Jr, Bonilla E, Null E, Monaco S, Hirano M, DiMauro S. Aortic rupture in mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes. Arch Neurol. 2006;63(2):281–3.

    Article  PubMed  Google Scholar 

  69. Finsterer J, Mahjoub SZ. Primary mitochondrial arteriopathy. Nutr Metab Cardiovasc Dis. 2012;22(5):393–9.

    Article  CAS  PubMed  Google Scholar 

  70. Iizuka T, Goto Y, Miyakawa S, Sato M, Wang Z, Suzuki K, Hamada J, Kurata A, Sakai F. Progressive carotid artery stenosis with a novel tRNA phenylalanine mitochondrial DNA mutation. J Neurol Sci. 2009;278(1–2):35–40.

    Article  CAS  PubMed  Google Scholar 

  71. Barclay AR, Sholler G, Christodolou J, Shun A, Arbuckle S, Dorney S, Stormon MO. Pulmonary hypertension – a new manifestation of mitochondrial disease. J Inherit Metab Dis. 2005;28(6):1081–9.

    Article  CAS  PubMed  Google Scholar 

  72. Belostotsky R, Ben-Shalom E, Rinat C, Becker-Cohen R, Feinstein S, Zeligson S, Segel R, Elpeleg O, Nassar S, Frishberg Y. Mutations in the mitochondrial seryl-tRNA synthetase cause hyperuricemia, pulmonary hypertension, renal failure in infancy and alkalosis, HUPRA syndrome. Am J Hum Genet. 2011;88(2):193–200.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  73. Catteruccia M, Verrigni D, Martinelli D, Torraco A, Agovino T, Bonafe L, D’Amico A, Donati MA, Adorisio R, Santorelli FM, Carrozzo R, Bertini E, Dionisi-Vici C. Persistent pulmonary arterial hypertension in the newborn (PPHN): a frequent manifestation of TMEM70 defective patients. Mol Genet Metab. 2014;111(3):353–9.

    Article  CAS  PubMed  Google Scholar 

  74. Indrieri A, van Rahden VA, Tiranti V, Morleo M, Iaconis D, Tammaro R, D’Amato I, Conte I, Maystadt I, Demuth S, Zvulunov A, Kutsche K, Zeviani M, Franco B. Mutations in COX7B cause microphthalmia with linear skin lesions, an unconventional mitochondrial disease. Am J Hum Genet. 2012;91(5):942–9.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  75. Parsons T, Weimer L, Engelstad K, Linker A, Battista V, Wei Y, Hirano M, DiMauro S, De Vivo DC, Kaufmann P. Autonomic symptoms in carriers of the m.3243A>G mitochondrial DNA mutation. Arch Neurol. 2010;67(8):976–9.

    Article  PubMed  PubMed Central  Google Scholar 

  76. Di LR, Musumeci O, de GC, Recupero A, Grimaldi P, Messina C, Coglitore S, Vita G, Toscano A. Evidence of cardiovascular autonomic impairment in mitochondrial disorders. J Neurol. 2007;254(11):1498–503.

    Article  Google Scholar 

  77. Majamaa-Voltti K, Majamaa K, Peuhkurinen K, Makikallio TH, Huikuri HV. Cardiovascular autonomic regulation in patients with 3243A>G mitochondrial DNA mutation. Ann Med. 2004;36(3):225–31.

    Article  CAS  PubMed  Google Scholar 

  78. Giannoni A, Aimo A, Mancuso M, Piepoli MF, Orsucci D, Aquaro GD, Barison A, De MD, Taddei C, Cameli M, Raglianti V, Siciliano G, Passino C, Emdin M. Autonomic, functional, skeletal muscle, and cardiac abnormalities are associated with increased ergoreflex sensitivity in mitochondrial disease. Eur J Heart Fail. 2017;19(12):1701–9.

    Article  CAS  PubMed  Google Scholar 

  79. Ponikowski PP, Chua TP, Francis DP, Capucci A, Coats AJ, Piepoli MF. Muscle ergoreceptor overactivity reflects deterioration in clinical status and cardiorespiratory reflex control in chronic heart failure. Circulation. 2001;104(19):2324–30.

    Article  CAS  PubMed  Google Scholar 

  80. Dominic EA, Ramezani A, Anker SD, Verma M, Mehta N, Rao M. Mitochondrial cytopathies and cardiovascular disease. Heart. 2014;100(8):611–8.

    Article  CAS  PubMed  Google Scholar 

  81. Feingold B, Mahle WT, Auerbach S, Clemens P, Domenighetti AA, Jefferies JL, Judge DP, Lal AK, Markham LW, Parks WJ, Tsuda T, Wang PJ, Yoo SJ. Management of cardiac involvement associated with neuromuscular diseases: a scientific statement from the American Heart Association. Circulation. 2017;136(13):e200–31.

    Article  PubMed  Google Scholar 

  82. Rapezzi C, Arbustini E, Caforio AL, Charron P, Gimeno-Blanes J, Helio T, Linhart A, Mogensen J, Pinto Y, Ristic A, Seggewiss H, Sinagra G, Tavazzi L, Elliott PM. Diagnostic work-up in cardiomyopathies: bridging the gap between clinical phenotypes and final diagnosis. A position statement from the ESC working group on myocardial and pericardial diseases. Eur Heart J. 2013;34(19):1448–58.

    Article  PubMed  Google Scholar 

  83. Messroghli DR, Moon JC, Ferreira VM, Grosse-Wortmann L, He T, Kellman P, Mascherbauer J, Nezafat R, Salerno M, Schelbert EB, Taylor AJ, Thompson R, Ugander M, van Heeswijk RB, Friedrich MG. Clinical recommendations for cardiovascular magnetic resonance mapping of T1, T2, T2* and extracellular volume: a consensus statement by the Society for Cardiovascular Magnetic Resonance (SCMR) endorsed by the European Association for Cardiovascular Imaging (EACVI). J Cardiovasc Magn Reson. 2017;19(1):75.

    Article  PubMed  PubMed Central  Google Scholar 

  84. Yilmaz A, Sechtem U. Diagnostic approach and differential diagnosis in patients with hypertrophied left ventricles. Heart. 2014;100(8):662–71.

    Article  PubMed  Google Scholar 

  85. Baik R, Chae JH, Lee YM, Kang HC, Lee JS, Kim HD. Electrocardiography as an early cardiac screening test in children with mitochondrial disease. Korean J Pediatr. 2010;53(5):644–7.

    Article  PubMed  PubMed Central  Google Scholar 

  86. Elliott PM, Anastasakis A, Borger MA, Borggrefe M, Cecchi F, Charron P, Hagege AA, Lafont A, Limongelli G, Mahrholdt H, McKenna WJ, Mogensen J, Nihoyannopoulos P, Nistri S, Pieper PG, Pieske B, Rapezzi C, Rutten FH, Tillmanns C, Watkins H. 2014 ESC guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC). Eur Heart J. 2014;35(39):2733–79.

    Article  PubMed  Google Scholar 

  87. Bernier FP, Boneh A, Dennett X, Chow CW, Cleary MA, Thorburn DR. Diagnostic criteria for respiratory chain disorders in adults and children. Neurology. 2002;59(9):1406–11.

    Article  CAS  PubMed  Google Scholar 

  88. Yilmaz A, Kindermann I, Kindermann M, Mahfoud F, Ukena C, Athanasiadis A, Hill S, Mahrholdt H, Voehringer M, Schieber M, Klingel K, Kandolf R, Bohm M, Sechtem U. Comparative evaluation of left and right ventricular endomyocardial biopsy: differences in complication rate and diagnostic performance. Circulation. 2010;122(9):900–9.

    Article  PubMed  Google Scholar 

  89. Rustin P, Chretien D, Bourgeron T, Wucher A, Saudubray JM, Rotig A, Munnich A. Assessment of the mitochondrial respiratory chain. Lancet. 1991;338(8758):60.

    Article  CAS  PubMed  Google Scholar 

  90. Morava E, Rodenburg R, van Essen HZ, De VM, Smeitink J. Dietary intervention and oxidative phosphorylation capacity. J Inherit Metab Dis. 2006;29(4):589.

    Article  CAS  PubMed  Google Scholar 

  91. Taivassalo T, Gardner JL, Taylor RW, Schaefer AM, Newman J, Barron MJ, Haller RG, Turnbull DM. Endurance training and detraining in mitochondrial myopathies due to single large-scale mtDNA deletions. Brain. 2006;129(Pt 12):3391–401.

    Article  PubMed  Google Scholar 

  92. Tveskov C, Angelo-Nielsen K. Kearns-Sayre syndrome and dilated cardiomyopathy. Neurology. 1990;40(3 Pt 1):553–4.

    Article  CAS  PubMed  Google Scholar 

  93. Ismail TF, Jabbour A, Gulati A, Mallorie A, Raza S, Cowling TE, Das B, Khwaja J, Alpendurada FD, Wage R, Roughton M, McKenna WJ, Moon JC, Varnava A, Shakespeare C, Cowie MR, Cook SA, Elliott P, O’Hanlon R, Pennell DJ, Prasad SK. Role of late gadolinium enhancement cardiovascular magnetic resonance in the risk stratification of hypertrophic cardiomyopathy. Heart. 2014;100(23):1851–8.

    Article  PubMed  Google Scholar 

  94. Merino JL, Peinado R. Arrhythmias associated with neuromuscular disorders. Card Electrophysiol Rev. 2002;6(1–2):132–5.

    Article  PubMed  Google Scholar 

  95. Chinnery P, Majamaa K, Turnbull D, Thorburn D. Treatment for mitochondrial disorders. Cochrane Database Syst Rev. 2006;1:CD004426.

    Google Scholar 

  96. Pfeffer G, Horvath R, Klopstock T, Mootha VK, Suomalainen A, Koene S, Hirano M, Zeviani M, Bindoff LA, Yu-Wai-Man P, Hanna M, Carelli V, McFarland R, Majamaa K, Turnbull DM, Smeitink J, Chinnery PF. New treatments for mitochondrial disease-no time to drop our standards. Nat Rev Neurol. 2013;9(8):474–81.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  97. Buyse G, Mertens L, Di SG, Matthijs I, Weidemann F, Eyskens B, Goossens W, Goemans N, Sutherland GR, Van Hove JL. Idebenone treatment in Friedreich’s ataxia: neurological, cardiac, and biochemical monitoring. Neurology. 2003;60(10):1679–81.

    Article  CAS  PubMed  Google Scholar 

  98. Lagedrost SJ, Sutton MS, Cohen MS, Satou GM, Kaufman BD, Perlman SL, Rummey C, Meier T, Lynch DR. Idebenone in Friedreich ataxia cardiomyopathy-results from a 6-month phase III study (IONIA). Am Heart J. 2011;161(3):639–45.

    Article  CAS  PubMed  Google Scholar 

  99. Bonnet D, Martin D, Pascale DL, Villain E, Jouvet P, Rabier D, Brivet M, Saudubray JM. Arrhythmias and conduction defects as presenting symptoms of fatty acid oxidation disorders in children. Circulation. 1999;100(22):2248–53.

    Article  CAS  PubMed  Google Scholar 

  100. Finsterer J, Stollberger C, Maeztu C. Sudden cardiac death in neuromuscular disorders. Int J Cardiol. 2016;203:508–15.

    Article  PubMed  Google Scholar 

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Authors and Affiliations

  1. Department of Cardiology, University Hospital Münster, Münster, Germany

    Anca R. Florian & Ali Yilmaz

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  1. Anca R. Florian
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  2. Ali Yilmaz
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Correspondence to Ali Yilmaz .

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  1. Department of Clinical and Experimental Medicine, Neurological Institute, University of Pisa, Pisa, Italy

    Michelangelo Mancuso

  2. Department of Neurology, Friedrich-Baur-Institute, Ludwig-Maximilians-University of Munich, Munich, Germany

    Thomas Klopstock

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Florian, A.R., Yilmaz, A. (2019). Mitochondrial Heart Involvement. In: Mancuso, M., Klopstock, T. (eds) Diagnosis and Management of Mitochondrial Disorders. Springer, Cham. https://doi.org/10.1007/978-3-030-05517-2_16

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  • DOI: https://doi.org/10.1007/978-3-030-05517-2_16

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