Skip to main content
SpringerLink
Log in

Hereditary Neuromuscular Diseases and Cardiac Involvement

  • Chapter
  • First Online:
Clinical Cardiogenetics

  • 547 Accesses

Abstract

Neuromuscular disorders comprise a large group of diseases caused by dysfunction of motor neurons, peripheral nerves and skeletal muscles. A fair proportion of neuromuscular disorders have a genetic cause. The incidence and prevalence of cardiomyopathies associated with inherited neuromuscular diseases, particularly with muscular dystrophies, have long been underestimated, even though cardiac involvement, presenting as cardiac conduction abnormalities, cardiomyopathy with heart failure and sudden cardiac death, is either the direct or indirect cause of death in many of these diseases.

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Log in via an institution
Chapter
USD 29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD 84.99
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD 109.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info
Hardcover Book
USD 159.99
Price excludes VAT (USA)
  • Durable hardcover edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

References

  1. Finsterer J, Stollberger C. Cardiac involvement in primary myopathies. Cardiology. 2000;94(1):1–11.

    Article  CAS  PubMed  Google Scholar 

  2. Mokri B, Engel AG. Duchenne dystrophy: electron microscopic findings pointing to a basic or early abnormality in the plasma membrane of the muscle fiber. Neurology. 1975 Dec;25(12):1111–20.

    Article  CAS  PubMed  Google Scholar 

  3. Head SI, Williams DA, Stephenson DG. Abnormalities in structure and function of limb skeletal muscle fibres of dystrophic mdx mice. Proc Biol Sci. 1992 May 22;248(1322):163–9.

    Article  CAS  PubMed  Google Scholar 

  4. Nigro G, Comi LI, Politano L, Bain RJI. The incidence and evolution of cardiomyopathy in Duchenne muscular dystrophy. Int J Cardiol. 1990;26:271–7.

    Article  CAS  PubMed  Google Scholar 

  5. van Essen AJ, Busch HF, te Meerman GJ, ten Kate LP. Birth and population prevalence of Duchenne muscular dystrophy in the Netherlands. Hum Genet. 1992;88(3):258–66.

    Article  PubMed  Google Scholar 

  6. Ricotti V, Ridout DA, Scott E, Quinlivan R, Robb SA, Manzur AY, Muntoni F, North Star Clinical Network. Long-term benefits and adverse effects of intermittent versus daily glucocorticoids in boys with Duchenne muscular dystrophy. J Neurol Neurosurg Psychiatry. 2013;84(6):698–705.

    Article  PubMed  Google Scholar 

  7. Eagle M, Baudouin SV, Chandler C, Giddings DR, Bullock R, Bushby K. Survival in Duchenne muscular dystrophy: improvements in life expectancy since 1967 and the impact of home nocturnal ventilation. Neuromuscul Disord. 2002 Dec;12(10):926–9.

    Article  PubMed  Google Scholar 

  8. Villa CR, Czosek RJ, Ahmed H, Khoury PR, Anderson JB, Knilans TK, Jefferies JL, Wong B, Spar DS. Ambulatory monitoring and arrhythmic outcomes in pediatric and adolescent patients with Duchenne muscular dystrophy. J Am Heart Assoc. 2015 Dec 31;5(1) https://doi.org/10.1161/JAHA.115.002620.

  9. Bushby K, Muntoni F, Bourke JP. 107th ENMC international workshop: the management of cardiac involvement in muscular dystrophy and myotonic dystrophy. 7th-9th June 2002, Naarden, the Netherlands. Neuromuscul Disord. 2003 Feb;13(2):166–72.

    Article  CAS  PubMed  Google Scholar 

  10. McNally EM, Kaltman JR, Benson DW, Working Group of the National Heart, Lung, and Blood Institute; Parent Project Muscular Dystrophy, et al. Contemporary cardiac issues in Duchenne muscular dystrophy. Working Group of the National Heart, Lung, and Blood Institute in collaboration with Parent Project Muscular Dystrophy. Circulation. 2015 May 5;131(18):1590–8.

    Article  PubMed  PubMed Central  Google Scholar 

  11. Birnkrant DJ, Bushby KMD, Bann CM, et al. Diagnosis and management of Duchenne muscular dystrophy part 2: respiratory, cardiac, bone health and orthopaedic management. Lancet Neurol. 2018;17(4):347–61.

    Article  PubMed  PubMed Central  Google Scholar 

  12. Power LC, O'Grady GL, Hornung TS, et al. Imaging the heart to detect cardiomyopathy in Duchenne muscular dystrophy: a review. Neuromuscul Disord. 2018 Sep;28(9):717–30.

    Article  PubMed  Google Scholar 

  13. Buddhe S, Lewin M, Olson A, Ferguson M, Soriano BD. Comparison of left ventricular function assessment between echocardiography and MRI in Duchenne muscular dystrophy. Pediatr Radiol. 2016 Sep;46(10):1399–408.

    Article  PubMed  Google Scholar 

  14. Brunklaus A, Parish E, Muntoni F, et al. The value of cardiac MRI versus echocardiography in the pre-operative assessment of patients with Duchenne muscular dystrophy. Eur J Paediatr Neurol. 2015;19:395–401.

    Article  CAS  PubMed  Google Scholar 

  15. Raman SV, Hor KN, Mazur W, et al. Eplerenone for early cardiomyopathy in Duchenne muscular dystrophy: a randomized, double-blind, placebo-controlled trial. Lancet Neurol. 2015 Feb;14(2):153–61.

    Article  CAS  PubMed  Google Scholar 

  16. Barber BJ, Andrews JG, Lu Z, et al. Oral corticosteriods and onset of cardiomyopathy in Duchenne muscular dystrophy. J Pediatr. 2013 Oct;163(4):1080–4.

    Article  CAS  PubMed  Google Scholar 

  17. Winterholler M, Holländer C, Kerling F, et al. Stroke in Duchenne muscular dystrophy: a retrospective longitudinal study in 54 patients. Stroke. 2016 Aug;47(8):2123–6.

    Article  PubMed  Google Scholar 

  18. Iodice F, Testa G, Averardi M, Brancaccio G, Amodeo A, Cogo P. Implantation of a left ventricular assist device as a destination therapy in Duchenne muscular dystrophy patients with end stage cardiac failure: management and lessons learned. Neuromuscul Disord. 2015 Jan;25(1):19–23.

    Article  PubMed  Google Scholar 

  19. Bushby KM, Thambyayah M, Gardner-Medwin D. Prevalence and incidence of Becker muscular dystrophy. Lancet. 1991;337(8748):1022–4.

    Article  CAS  PubMed  Google Scholar 

  20. Emery AE, Skinner R. Clinical studies in benign (Becker type) X-linked muscular dystrophy. Clin Genet. 1976;10(4):189–201.

    Article  CAS  PubMed  Google Scholar 

  21. Casazza F, Brambilla G, Salvato A, Morandi L, Gronda E, Bonacina E. Dilated cardiomyopathy and successful cardiac transplantation in Becker’s muscular dystrophy. Follow-up after two years. G Ital Cardiol. 1988;18(9):753–7.

    CAS  PubMed  Google Scholar 

  22. Narayanaswami P, Weiss M, Selcen D, et al. Evidence-based guideline summary: diagnosis and treatment of limb-girdle and distal dystrophies. Neurology. 2014;83:1453–63.

    Article  PubMed  PubMed Central  Google Scholar 

  23. Kwon HW, Kwon BS, Kim GB, et al. The effect of Enalapril and Carvedilol on left ventricular dysfunction in middle childhood an adolescent patients with muscular dystrophy. Korean Circ J. 2012 Mar;42(3):184–91.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  24. Hoogerwaard EM, De Voogt WG, Wilde AAM, et al. Evolution of cardiac abnormalities in Becker muscular dystrophy over a 13-year period. J Neurol. 1997;244:657–63.

    Article  CAS  PubMed  Google Scholar 

  25. Muntoni F, Cau M, Ganau A, et al. Deletion of the dystrophin muscle-promotor region associated with X-linked dilated cardiomyopathy. N Engl J Med. 1993;329:921–5.

    Article  CAS  PubMed  Google Scholar 

  26. Towbin JA, Fielding Hejtmancik J, Brink P, et al. X-linked dilated cardiomyopathy. Circulation. 1993;87:1854–65.

    Article  CAS  PubMed  Google Scholar 

  27. Muntoni F, Di LA, Porcu M, et al. Dystrophin gene abnormalities in two patients with idiopathic dilated cardiomyopathy. Heart. 1997 Dec;78(6):608–12.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  28. Ferlini A, Galié N, Merlini L, Sewry C, Branzi A, Muntoni F. A novel Alu-like element rearranged in the dystrophin gene causes a splicing mutation in a family with X-linked dilated cardiomyopathy. Am J Hum Genet. 1998 Aug;63(2):436–46.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  29. Hoogerwaard EM, van der Wouw PA, Wilde AAM, et al. Cardiac involvement in carriers of Duchenne and Becker muscular dystrophy. Neuromuscul Disord. 1999;9:347–51.

    Article  CAS  PubMed  Google Scholar 

  30. Politano L, Nigro V, Nigro G, et al. Development of cardiomyopathy in female carriers of Duchenne and Becker muscular dystrophy. JAMA. 1996;275:1335–8.

    Article  CAS  PubMed  Google Scholar 

  31. Grain L, Cortina-Borja M, Forfar C, Hilton-Jones D, Hopkin J, Burch M. Cardiac abnormalities and skeletal muscle weakness in carriers of Duchenne and Becker muscular dystrophies and controls. Neuromuscul Disord. 2001 Mar;11(2):186–91.

    Article  CAS  PubMed  Google Scholar 

  32. Schade van Westrum SM, Hoogerwaard EM, Dekker L, et al. Cardiac abnormalities in a follow-up study on carriers of Duchenne and Becker muscular dystrophy. Neurology. 2011 Jul 5;77(1):62–6.

    Article  CAS  PubMed  Google Scholar 

  33. Rees W, Schuler S, Hummel M, Hetzer R. Heart transplantation in patients with muscular dystrophy associated with end-stage cardiomyopathy. J Heart Lung Transplant. 1993 Sep;12(5):804–7.

    CAS  PubMed  Google Scholar 

  34. Schade van Westrum SM, Dekker LR, de Voogt WG, Wilde AA, Ginjaar IB, de Visser M, van der Kooi AJ. Cardiac involvement in Dutch patients with sarcoglycanopathy: a cross-sectional cohort and follow-up study. Muscle Nerve. 2014 Dec;50(6):909–13.

    Article  PubMed  Google Scholar 

  35. Williams TM, Lisanti MP. The Caveolin genes: from cell biology to medicine. Ann Med. 2004;36(8):584–95.

    Article  CAS  PubMed  Google Scholar 

  36. Hayashi T, Arimura T, Ueda K, et al. Identification and functional analysis of a caveolin-3 mutation associated with familial hypertrophic cardiomyopathy. Biochem Biophys Res Commun. 2004 Jan 2;313(1):178–84.

    Article  CAS  PubMed  Google Scholar 

  37. Cronk LB, Ye B, Kaku T, et al. Novel mechanism for sudden infant death syndrome: persistent late sodium current secondary to mutations in caveolin-3. Heart Rhythm. 2007 Feb;4(2):161–6.

    Article  PubMed  Google Scholar 

  38. Vatta M, Ackerman MJ, Ye B, et al. Mutant caveolin-3 induces persistent late sodium current and is associated with long-QT syndrome. Circulation. 2006 Nov 14;114(20):2104–12.

    Article  CAS  PubMed  Google Scholar 

  39. Goodwin FC, Muntoni F. Cardiac involvement in muscular dystrophies: molecular mechanisms. Muscle Nerve. 2005 Jun 2;32(5):577–88.

    Article  CAS  PubMed  Google Scholar 

  40. Brockington M, Yuva Y, Prandini P, et al. Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C. Hum Mol Genet. 2001 Dec 1;10(25):2851–9.

    Article  CAS  PubMed  Google Scholar 

  41. Poppe M, Cree L, Bourke J, et al. The phenotype of limb-girdle muscular dystrophy type 2I. Neurology. 2003 Apr 22;60(8):1246–51.

    Article  CAS  PubMed  Google Scholar 

  42. van der Kooi AJ, Frankhuizen WS, Barth PG, et al. Limb-girdle muscular dystrophy in the Netherlands: gene defect identified in half the families. Neurology. 2007 Jun 12;68(24):2125–8.

    Article  PubMed  Google Scholar 

  43. Sveen ML, Schwartz M, Vissing J. High prevalence and phenotype-genotype correlations of limb girdle muscular dystrophy type 2I in Denmark. Ann Neurol. 2006 May;59(5):808–15.

    Article  CAS  PubMed  Google Scholar 

  44. Wahbi K, Meune C, Hamouda EH, et al. Cardiac assessment of limb-girdle muscular dystrophy 2I patients: an echography, Holter ECG and magnetic resonance imaging study. Neuromuscul Disord. 2008 Aug;18(8):650–5.

    Article  PubMed  Google Scholar 

  45. Petri H, Sveen ML, Thune JJ, Vissing C, Dahlqvist JR, Witting N, Bundgaard H, Køber L, Vissing J. Progression of cardiac involvement in patients with limb-girdle type 2 and Becker muscular dystrophies: a 9-year follow-up study. Int J Cardiol. 2015 Mar 1;182:403–11.

    Article  PubMed  Google Scholar 

  46. Kobayashi K, Nakahori Y, Miyake M, et al. An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy. Nature. 1998 Jul 23;394(6691):388–92.

    Article  CAS  PubMed  Google Scholar 

  47. Toda T, Kobayashi K, Kondo-Iida E, Sasaki J, Nakamura Y. The Fukuyama congenital muscular dystrophy story. Neuromuscul Disord. 2000 Mar;10(3):153–9.

    Article  CAS  PubMed  Google Scholar 

  48. Murakami T, Hayashi YK, Noguchi S, et al. Fukutin gene mutations cause dilated cardiomyopathy with minimal muscle weakness. Ann Neurol. 2006 Nov;60(5):597–602.

    Article  CAS  PubMed  Google Scholar 

  49. Nakanishi T, Sakauchi M, Kaneda Y, et al. Cardiac involvement in Fukuyama-type congenital muscular dystrophy. Pediatrics. 2006;117(6):e1187–92.

    Article  PubMed  Google Scholar 

  50. Bione S, Maestrini E, Rivella S, et al. Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy. Nat Genet. 1994;8:323–7.

    Article  CAS  PubMed  Google Scholar 

  51. Manilal S, Nguyen TM, Sewry CA, Morris GE. The Emery-Dreifuss muscular dystrophy protein, emerin, is a nuclear membrane protein. Hum Mol Genet. 1996 Jun;5(6):801–8.

    Article  CAS  PubMed  Google Scholar 

  52. Emery AE. Emery-Dreifuss muscular dystrophy – a 40 year retrospective. Neuromuscul Disord. 2000 Jun;10(4–5):228–32.

    Article  CAS  PubMed  Google Scholar 

  53. Wehnert M, Muntoni F. 60th ENMC international workshop: non X-linked Emery-Dreifuss muscular dystrophy 5–7 June 1998, Naarden, The Netherlands. Neuromuscul Disord. 1999 Mar;9(2):115–21.

    Article  CAS  PubMed  Google Scholar 

  54. Talkop UA, Talvik I, Sonajalg M, et al. Early onset of cardiomyopathy in two brothers with X-linked Emery-Dreifuss muscular dystrophy. Neuromuscul Disord. 2002 Nov;12(9):878–81.

    Article  PubMed  Google Scholar 

  55. Buckley AE, Dean J, Mahy IR. Cardiac involvement in Emery Dreifuss muscular dystrophy: a case series. Heart. 1999 Jul;82(1):105–8.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  56. Sakata K, Shimizu M, Ino H, et al. High incidence of sudden cardiac death with conduction disturbances and atrial cardiomyopathy caused by a nonsense mutation in the STA gene. Circulation. 2005 Jun 28;111(25):3352–8.

    Article  PubMed  Google Scholar 

  57. Nigro G, Russo V, Ventriglia VA, et al. Early onset of cardiomyopathy and primary prevention of sudden death in X-linked Emery–Dreifuss muscular dystrophy. Neuromuscul Disord. 2010;20:174–7.

    Article  PubMed  Google Scholar 

  58. Silvestri NJ, Ismail H, Zimetbaum P, Raynor EM. Cardiac involvement in the muscular dystrophies. Muscle Nerve. 2018 May;57(5):707–15.

    Article  PubMed  Google Scholar 

  59. Bonne G, Di Barletta MR, Varnous S, et al. Mutations in the gene encoding Lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy. Nat Genet. 1999 Mar;21(3):285–8.

    Article  CAS  PubMed  Google Scholar 

  60. van Berlo JH, de Voogt WG, van der Kooi AJ, et al. Meta-analysis of clinical characteristics of 299 carriers of LMNA gene mutations: do Lamin A/C mutations portend a high risk of sudden death? J Mol Med. 2005 Jan;83(1):79–83.

    Article  CAS  PubMed  Google Scholar 

  61. Curtis JP, Luebbert JJ, Wang Y, et al. Association of physician certification and outcomes among patients receiving an implantable cardioverter-defibrillator. JAMA. 2009 Apr 22;301(16):1661–70.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  62. Van Rijsingen IA, Arbustini E, Elliott PM, et al. Risk factors for malignant ventricular arrhythmias in Lamin a/c mutation carriers: a European cohort study. J Am Coll Cardiol. 2012 Jan 31;59(5):493–500.

    Article  PubMed  CAS  Google Scholar 

  63. Sovari AA, Bodine CK, Farokhi F. Cardiovascular manifestations of myotonic dystrophy-1. Cardiol Rev. 2007 Jul;15(4):191–4.

    Article  PubMed  Google Scholar 

  64. Groh WJ, Groh MR, Saha C, et al. Electrocardiographic abnormalities and sudden death in myotonic dystrophy type 1. N Engl J Med. 2008 Jun 19;358(25):2688–97.

    Article  CAS  PubMed  Google Scholar 

  65. Hermans MC, Faber CG, Pinto YM. Sudden death in myotonic dystrophy. N Engl J Med. 2008 Oct 9;359(15):1626–8.

    CAS  PubMed  Google Scholar 

  66. Wahbi K, Babuty D, Probst V, et al. Incidence and predictors of sudden death, major conduction defects and sustained ventricular tachyarrhythmias in 1388 patients with myotonic dystrophy type 1. Eur Heart J. 2017;38(10):751–8.

    PubMed  Google Scholar 

  67. Wahbi K, Christophe Meune C, Henri Marc Becane HM, et al. left ventricular arrhythmias are frequent in type 2 myotonic dystrophy: a case control study. Elsevier. Neuromuscul Disord. 2009;19:468–72.

    Article  PubMed  Google Scholar 

  68. Sansone V, Griggs RC, Meola G, et al. Andersen’s syndrome: a distinct periodic paralysis. Ann Neurol. 1997 Sep;42(3):305–12.

    Article  CAS  PubMed  Google Scholar 

  69. Selcen D. Myofibrillar myopathies. Curr Opin Neurol. 2008 Oct;21(5):585–9.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  70. Wahbi K, Béhin A, Charron P, Dunand M, Richard P, Meune C, Vicart P, Laforêt P, Stojkovic T, Bécane HM, Kuntzer T, Duboc D. High cardiovascular morbidity and mortality in myofibrillar myopathies due to DES gene mutations: a 10-year longitudinal study. Neuromuscul Disord. 2012 Mar 22;22(3):211–8.

    Article  PubMed  Google Scholar 

  71. Mah JK, Joseph JT. An overview of congenital myopathies. Continuum. 2016;22(6):1932–53.

    PubMed  Google Scholar 

  72. Savarese M, Sarparanta J, Vihola A, et al. Increasing role of Titin mutations in neuromuscular disorders. Journal of Neuromuscular Diseases. 2016;3:293–308.

    Article  PubMed  PubMed Central  Google Scholar 

  73. Oates EC, Jones KJ, Donkervoort S, et al. Congenital Titinopathy: comprehensive characterization and pathogenic insights. Ann Neurol. 2018;83(6):1105–24.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  74. Feng JJ, Marston S. Genotype-phenotype correlations in ACTA1 mutations that cause congenital myopathies. Neuromuscul Disord. 2009 Jan;19(1):6–16.

    Article  PubMed  Google Scholar 

  75. Finsterer J, Stollberger C. Review of cardiac disease in Nemaline myopathy. Pediatr Neurol. 2015;53:473–7.

    Article  PubMed  Google Scholar 

  76. Tajsharghi H, Oldfors A, Macleod DP, Swash M. Homozygous mutation in MYH7 in myosin storage myopathy and cardiomyopathy. Neurology. 2007 Mar 20;68(12):962.

    Article  PubMed  Google Scholar 

  77. Uro-Coste E, Arne-Bes MC, Pellissier JF, et al. Striking phenotypic variability in two familial cases of myosin storage myopathy with a MYH7 Leu1793pro mutation. Neuromuscul Disord. 2009 Feb;19(2):163–6.

    Article  PubMed  Google Scholar 

  78. Agrawal PB, Pierson CR, Joshi M, Liu X, Ravenscroft G, Moghadaszadeh B, Talabere T, Viola M, Swanson LC, Haliloğlu G, Talim B, Yau KS, Allcock RJ, Laing NG, Perrella MA, Beggs AH. SPEG interacts with myotubularin, and its deficiency causes centronuclear myopathy with dilated cardiomyopathy. Am J Hum Genet. 2014 Aug 7;95(2):218–26.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  79. Hagemans ML, Hop WJ, Van Doorn PA, Reuser AJ, Van der Ploeg AT. Course of disability and respiratory function in untreated late-onset Pompe disease. Neurology. 2006 Feb 28;66(4):581–3.

    Article  CAS  PubMed  Google Scholar 

  80. Sacconi S, Wahbi K, Theodore G, Garcia J, Salviati L, Bouhour F, Vial C, Duboc D, Laforêt P, Desnuelle C. Atrio-ventricular block requiring pacemaker in patients with late onset Pompe disease. Neuromuscul Disord. 2014 Jul;24(7):648–50.

    Article  PubMed  Google Scholar 

  81. Van der Beek NA, Hagemans ML, Van der Ploeg AT, Reuser AJ, Van Doorn PA. Pompe disease (glycogen storage disease type II): clinical features and enzyme replacement therapy. Acta Neurol Belg. 2006 Jun;106(2):82–6.

    PubMed  Google Scholar 

  82. Van der Beek NA, Soliman OI, van Capelle CI, et al. Cardiac evaluation in children and adults with Pompe disease sharing the common c.-32–13T>G genotype rarely reveals abnormalities. J Neurol Sci. 2008 Dec 15;275(1–2):46–50.

    Article  PubMed  CAS  Google Scholar 

  83. Danon MJ, Oh SJ, DiMauro S, et al. Lysosomal glycogen storage disease with normal acid maltase. Neurology. 1981 Jan;31(1):51–7.

    Article  CAS  PubMed  Google Scholar 

  84. van der Kooi AJ, van Langen IM, Aronica E, et al. Extension of the clinical spectrum of Danon disease. Neurology. 2008 Apr 15;70(16):1358–9.

    Article  PubMed  Google Scholar 

  85. Cheng Z, Fang Q. Danon disease: focusing on heart. J Hum Genet. 2012;57:407–10.

    Article  CAS  PubMed  Google Scholar 

  86. Ozawa T, Tanaka M, Sugiyama S, Hattori K, Ito T, Ohno K, Takahashi A, Sato W, Takada G, Mayumi B, et al. Multiple mitochondrial DNA deletions exist in cardiomyocytes of patients with hypertrophic or dilated cardiomyopathy. Biochem Biophys Res Commun. 1990 Jul 31;170(2):830–6.

    Article  CAS  PubMed  Google Scholar 

  87. Wahbi K, Bougouin W, Béhin A, et al. Long-term cardiac prognosis and risk stratification in 260 adults presenting with mitochondrial diseases. Eur Heart J. 2015 Nov;36(42):2886–93.

    Article  PubMed  Google Scholar 

  88. Tranchant C, Mousson B, Mohr M, et al. Cardiac transplantation in an incomplete Kearns-Sayre syndrome with mitochondrial DNA deletion. Neuromuscul Disord. 1993 Sep;3(5–6):561–6.

    Article  CAS  PubMed  Google Scholar 

  89. Fu L, Huang M, Chen S. Primary Carnitine deficiency and cardiomyopathy. Korean Circulation Journal. 2013 Dec;43(12):785–92.

    Article  PubMed  PubMed Central  Google Scholar 

  90. Bit-Avragim N, Perrot A, Schols L, et al. The GAA repeat expansion in intron 1 of the frataxin gene is related to the severity of cardiac manifestation in patients with Friedreich’s ataxia. J Mol Med. 2001;78(11):626–32.

    Article  CAS  PubMed  Google Scholar 

  91. Weidemann F, Stork S, Liu D, et al. Cardiomyopathy of Friedreich Ataxia. J Neurochem. 2013;126:88–93.

    Article  CAS  PubMed  Google Scholar 

  92. Corben LA, Lynch D, Pandolfo M, Schulz JB, Delatycki MB. Clinical Management Guidelines Writing Group Consensus clinical management guidelines for Friedreich ataxia. Orphanet J Rare Dis. 2014 Nov 30;9:184.

    Article  PubMed  PubMed Central  Google Scholar 

  93. Barth PG, Valianpour F, Bowen VM, et al. X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): an update. Am J Med Genet A. 2004 May 1;126A(4):349–54.

    Article  PubMed  Google Scholar 

  94. Barth PG, Wanders RJ, Vreken P. X-linked cardioskeletal myopathy and neutropenia (Barth syndrome)-MIM 302060. J Pediatr. 1999 Sep;135(3):273–6.

    Article  CAS  PubMed  Google Scholar 

  95. Stangou AJ, Hawkins PN, Heaton ND, et al. Progressive cardiac amyloidosis following liver transplantation for familial amyloid polyneuropathy: implications for amyloid fibrillogenesis. Transplantation. 1998 Jul 27;66(2):229–33.

    Article  CAS  PubMed  Google Scholar 

  96. Maurer MS, Schwartz JH, Gundapaneni B, et al. Tafamidis treatment for patients with Transthyretin amyloid cardiomyopathy. N J Med. 2018 Sep 13;379(11):1007–16.

    Article  CAS  Google Scholar 

  97. Ruberg FL, Berk JL. Transthyretin (TTR) cardiac amyloidosis. Circulation. 2012 Sep 4;126(10):1286–300.

    Article  PubMed  PubMed Central  Google Scholar 

  98. Algalarrondo V, Dinanian S, Juin C, Chemla D, Bennani SL, Sebag C, Planté V, Le Guludec D, Samuel D, Adams D, Slama MS. Prophylactic pacemaker implantation in familial amyloid polyneuropathy. Heart Rhythm. 2012 Jul;9(7):1069–75.

    Article  PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Amsterdam UMC, Academic Medical Center (AMC), Neuroscience Institute, University of Amsterdam, Amsterdam, The Netherlands

    S. M. Schade van Westrum & A. J. van der Kooi

  2. APHP, Cochin Hospital, Cardiology Department, FILNEMUS, Paris-Descartes, Sorbonne Paris Cité University, Paris, France

    K. Wahbi

  3. Center of Research in Myology, Sorbonne Université, INSERM UMRS 974, Paris, France

    G. Bonne

  4. Institut de Myologie, Paris, France

    G. Bonne

Authors
  1. S. M. Schade van Westrum
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. K. Wahbi
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. G. Bonne
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. A. J. van der Kooi
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to A. J. van der Kooi .

Editor information

Editors and Affiliations

  1. Consultant Cardiologist at the OLVG Hospital, Amsterdam, The Netherlands

    Hubert F. Baars

  2. Utrecht University, Utrecht, The Netherlands

    Pieter A. F. M. Doevendans

  3. Amsterdam University Medical Center, Amsterdam, The Netherlands

    Arjan C. Houweling

  4. University Medical Center Utrecht, Utrecht, The Netherlands

    J. Peter van Tintelen

Rights and permissions

Reprints and permissions

Copyright information

© 2020 Springer Nature Switzerland AG

About this chapter

Check for updates. Verify currency and authenticity via CrossMark

Cite this chapter

van Westrum, S.M.S., Wahbi, K., Bonne, G., van der Kooi, A.J. (2020). Hereditary Neuromuscular Diseases and Cardiac Involvement. In: Baars, H.F., Doevendans, P.A.F.M., Houweling, A.C., van Tintelen, J.P. (eds) Clinical Cardiogenetics. Springer, Cham. https://doi.org/10.1007/978-3-030-45457-9_22

Download citation

  • DOI: https://doi.org/10.1007/978-3-030-45457-9_22

  • Published:

  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-030-45456-2

  • Online ISBN: 978-3-030-45457-9

  • eBook Packages: MedicineMedicine (R0)

Publish with us

Policies and ethics

Search

Navigation