Progress in Pediatric Cardiology
Volume 25, Issue 1 , Pages 57-67 , April 2008

Genetics of familial dilated cardiomyopathy

  • Shaji C. Menon

      Affiliations

    • Department of Pediatric and Adolescent Medicine, Division of Pediatric Cardiology, Mayo Clinic, Rochester, MN, USA
    • ,
  • Timothy M. Olson

      Affiliations

    • Department of Pediatric and Adolescent Medicine, Division of Pediatric Cardiology, Mayo Clinic, Rochester, MN, USA
    • Department of Medicine, Division of Cardiovascular Diseases, Mayo Clinic, Rochester, MN, USA
    • ,
  • Virginia V. Michels

      Affiliations

    • Department of Medical Genetics, Mayo Clinic, Rochester, MN, USA
    • Corresponding Author InformationCorresponding author. Department of Medical Genetics, Mayo Clinic College of Medicine, 200 First Street SW, Rochester, MN 55905, USA. Tel.: +1 507 284 2229; fax: +1 507 284 1067.

References 

  1. Richardson P, McKenna W, Bristow M, et al. Report of the 1995 World Health Organization/International Society and Federation of Cardiology Task Force on the definition and classification of cardiomyopathies. Circulation. 1996;93(5):841–842
  2. Chin TK, Perloff JK, Williams RG, Jue K, Mohrmann R. Isolated noncompaction of left ventricular myocardium. A study of eight cases. Circulation. 1990;82(2):507–513
  3. Lorsheyd A, Cramer MJ, Velthuis BK, et al. Familial occurrence of isolated non-compaction cardiomyopathy. Eur J Heart Fail. 2006;8(8):826–831
  4. Hershberger R. Familial dilated cardiomyopathy. Prog Pediatr Cardiol. 2005;(20):161–168
  5. Schonberger J, Seidman CE. Many roads lead to a broken heart: the genetics of dilated cardiomyopathy. Am J Hum Genet. 2001;69(2):249–260
  6. Ahmad F, Seidman JG, Seidman CE. The genetic basis for cardiac remodeling. Annu Rev Genomics Hum Genet. 2005;6:185–216
  7. Olson TM, Michels VV, Thibodeau SN, Tai YS, Keating MT. Actin mutations in dilated cardiomyopathy, a heritable form of heart failure. Science. 1998;280(5364):750–752
  8. Olson TM, Doan TP, Kishimoto NY, Whitby FG, Ackerman MJ, Fananapazir L. Inherited and de novo mutations in the cardiac actin gene cause hypertrophic cardiomyopathy. J Mol Cell Cardiol. 2000;32(9):1687–1694
  9. Cox GF, Sleeper LA, Lowe AM, et al. Factors associated with establishing a causal diagnosis for children with cardiomyopathy. Pediatrics. 2006;118(4):1519–1531
  10. Towbin JA, Bowles NE. The failing heart. Nature. 2002;415(6868):227–233
  11. Waltz DA, Boucek MM, Edwards LB, et al. Registry of the International Society for Heart and Lung Transplantation: ninth official pediatric lung and heart–lung transplantation report—2006. J Heart Lung Transplant. 2006;25(8):904–911
  12. Fuster V, Gersh BJ, Giuliani ER, Tajik AJ, Brandenburg RO, Frye RL. The natural history of idiopathic dilated cardiomyopathy. Am J Cardiol. 1981;47(3):525–531
  13. Michels VV, Moll PP, Miller FA, et al. The frequency of familial dilated cardiomyopathy in a series of patients with idiopathic dilated cardiomyopathy. N Engl J Med. 1992;326(2):77–82
  14. Grunig E, Tasman JA, Kucherer H, Franz W, Kubler W, Katus HA. Frequency and phenotypes of familial dilated cardiomyopathy. J Am Coll Cardiol. 1998;31(1):186–194
  15. Baig MK, Goldman JH, Caforio AL, Coonar AS, Keeling PJ, McKenna WJ. Familial dilated cardiomyopathy: cardiac abnormalities are common in asymptomatic relatives and may represent early disease. J Am Coll Cardiol. 1998;31(1):195–201
  16. Gillum RF. Idiopathic cardiomyopathy in the United States, 1970–1982. Am Heart J. 1986;111(4):752–755
  17. O'Connell JB, Bristow MR. Economic impact of heart failure in the United States: time for a different approach. J Heart Lung Transplant. 1994;13(4):S107–S112
  18. Nugent AW, Daubeney PE, Chondros P, et al. The epidemiology of childhood cardiomyopathy in Australia. N Engl J Med. 2003;348(17):1639–1646
  19. Codd MB, Sugrue DD, Gersh BJ, Melton LJ. Epidemiology of idiopathic dilated and hypertrophic cardiomyopathy. A population-based study in Olmsted County, Minnesota, 1975–1984. Circulation. 1989;80(3):564–572
  20. Towbin JA, Lowe AM, Colan SD, et al. Incidence, causes, and outcomes of dilated cardiomyopathy in children. JAMA. 2006;296(15):1867–1876
  21. Arola A, Jokinen E, Ruuskanen O, et al. Epidemiology of idiopathic cardiomyopathies in children and adolescents. In: A nationwide study in Finland. Am J Epidemiol. 146(5):1997;p. 385–393
  22. Daubeney PE, Nugent AW, Chondros P, et al. Clinical features and outcomes of childhood dilated cardiomyopathy: results from a national population-based study. Circulation. 2006;114(24):2671–2678
  23. Olson TM, Hoffman TM, Chan DP. Dilated congestive cardiomyopathy. In:  Allen HD,  Driscoll DJ,  Feltes TF,  Shaddy RE editor. Moss and Adams' Heart Disease in Infants, Children and Adolescents. 7th Edition. Philadelphia: Lippincott Williams & Wilkins; 2008;p. 1195–1206
  24. Akagi T, Benson LN, Lightfoot NE, Chin K, Wilson G, Freedom RM. Natural history of dilated cardiomyopathy in children. Am Heart J. 1991;121(5):1502–1506
  25. Friedman RA, Moak JP, Garson A. Clinical course of idiopathic dilated cardiomyopathy in children. J Am Coll Cardiol. 1991;18(1):152–156
  26. Tsirka AE, Trinkaus K, Chen SC, et al. Improved outcomes of pediatric dilated cardiomyopathy with utilization of heart transplantation. J Am Coll Cardiol. 2004;44(2):391–397
  27. Towbin JA, Bowles NE. Dilated cardiomyopathy: a tale of cytoskeletal proteins and beyond. J Cardiovasc Electrophysiol. 2006;17(8):919–926
  28. Burch M, Siddiqi SA, Celermajer DS, Scott C, Bull C, Deanfield JE. Dilated cardiomyopathy in children: determinants of outcome. Br Heart J. 1994;72(3):246–250
  29. Michels VV, Driscoll DJ, Miller FA, et al. Progression of familial and non-familial dilated cardiomyopathy: long term follow up. Heart. 2003;89(7):757–761
  30. Hirschhorn JN, Lohmueller K, Byrne E, Hirschhorn K. A comprehensive review of genetic association studies. Genet Med. 2002;4(2):45–61
  31. McNamara DM, Holubkov R, Janosko K, et al. Pharmacogenetic interactions between beta-blocker therapy and the angiotensin-converting enzyme deletion polymorphism in patients with congestive heart failure. Circulation. 2001;103(12):1644–1648
  32. Poller W, Kuhl U, Tschoepe C, Pauschinger M, Fechner H, Schultheiss HP. Genome-environment interactions in the molecular pathogenesis of dilated cardiomyopathy. J Mol Med. 2005;83(8):579–586
  33. Liggett SB, Wagoner LE, Craft LL, et al. The Ile164 beta2-adrenergic receptor polymorphism adversely affects the outcome of congestive heart failure. J Clin Invest. 1998;102(8):1534–1539
  34. Small KM, Wagoner LE, Levin AM, Kardia SL, Liggett SB. Synergistic polymorphisms of beta1- and alpha2C-adrenergic receptors and the risk of congestive heart failure. N Engl J Med. 2002;347(15):1135–1142
  35. Charron P, Tesson F, Poirier O, et al. Identification of a genetic risk factor for idiopathic dilated cardiomyopathy. Involvement of a polymorphism in the endothelin receptor type A gene. In: CARDIGENE group. Eur Heart J. 20(21):1999;p. 1587–1591
  36. Mestroni L, Gilbert EM, Bohlmeyer TJ, Bristow MR. Dilated cardiomyopathies. In:  Fuster V, Alexander RW,  O'Rourke RA,  Roberts R,  King SB,  Prystowsky EN,  Nash IS editor. Hurst's The Heart. 11 ed. McGraw-Hill; 2004;Section 2 (electronic version)
  37. Kamisago M, Sharma SD, DePalma SR, et al. Mutations in sarcomere protein genes as a cause of dilated cardiomyopathy. N Engl J Med. 2000;343(23):1688–1696
  38. Olson TM, Kishimoto NY, Whitby FG, Michels VV. Mutations that alter the surface charge of alpha-tropomyosin are associated with dilated cardiomyopathy. J Mol Cell Cardiol. 2001;33(4):723–732
  39. Schmitt JP, Kamisago M, Asahi M, et al. Dilated cardiomyopathy and heart failure caused by a mutation in phospholamban. Science. 2003;299(5611):1410–1413
  40. Li D, Parks SB, Kushner JD, et al. Mutations of presenilin genes in dilated cardiomyopathy and heart failure. Am J Hum Genet. 2006;79(6):1030–1039
  41. Mogensen J, Klausen IC, Pedersen AK, et al. Alpha-cardiac actin is a novel disease gene in familial hypertrophic cardiomyopathy. J Clin Invest. 1999;103(10):R39–R43
  42. Fatkin D, MacRae C, Sasaki T, et al. Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease. N Engl J Med. 1999;341(23):1715–1724
  43. Olson TM, Michels VV, Ballew JD, et al. Sodium channel mutations and susceptibility to heart failure and atrial fibrillation. JAMA. 2005;293(4):447–454
  44. Wilson KL, Zastrow MS, Lee KK. Lamins and disease: insights into nuclear infrastructure. Cell. 2001;104(5):647–650
  45. Bienengraeber M, Olson TM, Selivanov VA, et al. ABCC9 mutations identified in human dilated cardiomyopathy disrupt catalytic KATP channel gating. Nat Genet. 2004;36(4):382–387
  46. Brega A, Narula J, Arbustini E. Functional, structural, and genetic mitochondrial abnormalities in myocardial diseases. J Nucl Cardiol. 2001;8(1):89–97
  47. Mestroni L, Rocco C, Gregori D, et al. Familial dilated cardiomyopathy: evidence for genetic and phenotypic heterogeneity. In: Heart Muscle Disease Study Group. J Am Coll Cardiol. 34(1):1999;p. 181–190
  48. Arbustini E, Pilotto A, Repetto A, et al. Autosomal dominant dilated cardiomyopathy with atrioventricular block: a lamin A/C defect-related disease. J Am Coll Cardiol. 2002;39(6):981–990
  49. Sebillon P, Bouchier C, Bidot LD, et al. Expanding the phenotype of LMNA mutations in dilated cardiomyopathy and functional consequences of these mutations. J Med Genet. 2003;40(8):560–567
  50. Towbin JA, Hejtmancik JF, Brink P, et al. X-linked dilated cardiomyopathy. In: Molecular genetic evidence of linkage to the Duchenne muscular dystrophy (dystrophin) gene at the Xp21 locus. Circulation. 87(6):1993;p. 1854–1865
  51. Berko BA, Swift M. X-linked dilated cardiomyopathy. N Engl J Med. 1987;316(19):1186–1191
  52. Hoogerwaard EM, Bakker E, Ippel PF, et al. Signs and symptoms of Duchenne muscular dystrophy and Becker muscular dystrophy among carriers in The Netherlands: a cohort study. Lancet. 1999;353(9170):2116–2119
  53. Muntoni F, Di Lenarda A, Porcu M, et al. Dystrophin gene abnormalities in two patients with idiopathic dilated cardiomyopathy. Heart. 1997;78(6):608–612
  54. Bione S, D'Adamo P, Maestrini E, Gedeon AK, Bolhuis PA, Toniolo D. A novel X-linked gene, G4.5. is responsible for Barth syndrome. Nat Genet. 1996;12(4):385–389
  55. D'Adamo P, Fassone L, Gedeon A, et al. The X-linked gene G4.5 is responsible for different infantile dilated cardiomyopathies. Am J Hum Genet. 1997;61(4):862–867
  56. Bleyl SB, Mumford BR, Thompson V, et al. Neonatal, lethal noncompaction of the left ventricular myocardium is allelic with Barth syndrome. Am J Hum Genet. 1997;61(4):868–872
  57. Barth PG, Scholte HR, Berden JA, et al. An X-linked mitochondrial disease affecting cardiac muscle, skeletal muscle and neutrophil leucocytes. J Neurol Sci. 1983;62(1–3):327–355
  58. Finsterer J, Stollberger C. Cardiac involvement in primary myopathies. Cardiology. 2000;94(1):1–11
  59. Mason JW, O'Connell JB, Herskowitz A, et al. A clinical trial of immunosuppressive therapy for myocarditis. In: The Myocarditis treatment trial investigators. N Engl J Med. 333(5):1995;p. 269–275
  60. Martin AB, Webber S, Fricker FJ, et al. Acute myocarditis. Rapid diagnosis by PCR in children. Circulation. 1994;90(1):330–339
  61. Kuhl U, Pauschinger M, Noutsias M, et al. High prevalence of viral genomes and multiple viral infections in the myocardium of adults with “idiopathic” left ventricular dysfunction. Circulation. 2005;111(7):887–893
  62. Crispell KA, Wray A, Ni H, Nauman DJ, Hershberger RE. Clinical profiles of four large pedigrees with familial dilated cardiomyopathy: preliminary recommendations for clinical practice. J Am Coll Cardiol. 1999;34(3):837–847
  63. Goerss JB, Michels VV, Burnett J, et al. Frequency of familial dilated cardiomyopathy. Eur Heart J. 1995;16(Suppl O):2–4
  64. Taylor MR, Fain PR, Sinagra G, et al. Natural history of dilated cardiomyopathy due to lamin A/C gene mutations. J Am Coll Cardiol. 2003;41(5):771–780
  65. Jacob KN, Garg A. Laminopathies: multisystem dystrophy syndromes. Mol Genet Metab. 2006;87(4):289–302
  66. Rankin J, Ellard S. The laminopathies: a clinical review. Clin Genet. 2006;70(4):261–274
  67. Mogensen J, Murphy RT, Shaw T, et al. Severe disease expression of cardiac troponin C and T mutations in patients with idiopathic dilated cardiomyopathy. J Am Coll Cardiol. 2004;44(10):2033–2040
  68. Hanson EL, Jakobs PM, Keegan H, et al. Cardiac troponin T lysine 210 deletion in a family with dilated cardiomyopathy. J Card Fail. 2002;8(1):28–32
  69. Mohapatra B, Jimenez S, Lin JH, et al. Mutations in the muscle LIM protein and alpha-actinin-2 genes in dilated cardiomyopathy and endocardial fibroelastosis. Mol Genet Metab. 2003;80(1–2):207–215
  70. Jung M, Poepping I, Perrot A, et al. Investigation of a family with autosomal dominant dilated cardiomyopathy defines a novel locus on chromosome 2q14–q22. Am J Hum Genet. 1999;65(4):1068–1077
  71. Gerull B, Gramlich M, Atherton J, et al. Mutations of TTN, encoding the giant muscle filament titin, cause familial dilated cardiomyopathy. Nat Genet. 2002;30(2):201–204
  72. Itoh-Satoh M, Hayashi T, Nishi H, et al. Titin mutations as the molecular basis for dilated cardiomyopathy. Biochem Biophys Res Commun. 2002;291(2):385–393
  73. Li D, Tapscoft T, Gonzalez O, et al. Desmin mutation responsible for idiopathic dilated cardiomyopathy. Circulation. 1999;100(5):461–464
  74. Tesson F, Sylvius N, Pilotto A, et al. Epidemiology of desmin and cardiac actin gene mutations in a european population of dilated cardiomyopathy. Eur Heart J. 2000;21(22):1872–1876
  75. Taylor MR, Slavov D, Ku L, et al. Prevalence of desmin mutations in dilated cardiomyopathy. Circulation. 2007;115(10):1244–1251
  76. Coral-Vazquez R, Cohn RD, Moore SA, et al. Disruption of the sarcoglycan–sarcospan complex in vascular smooth muscle: a novel mechanism for cardiomyopathy and muscular dystrophy. Cell. 1999;98(4):465–474
  77. Tsubata S, Bowles KR, Vatta M, et al. Mutations in the human delta-sarcoglycan gene in familial and sporadic dilated cardiomyopathy. J Clin Invest. 2000;106(5):655–662
  78. Carvajal-Huerta L. Epidermolytic palmoplantar keratoderma with woolly hair and dilated cardiomyopathy. J Am Acad Dermatol. 1998;39(3):418–421
  79. Norgett EE, Hatsell SJ, Carvajal-Huerta L, et al. Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma. Hum Mol Genet. 2000;9(18):2761–2766
  80. Rampazzo A, Nava A, Malacrida S, et al. Mutation in human desmoplakin domain binding to plakoglobin causes a dominant form of arrhythmogenic right ventricular cardiomyopathy. Am J Hum Genet. 2002;71(5):1200–1206
  81. Sylvius N, Tesson F, Gayet C, et al. A new locus for autosomal dominant dilated cardiomyopathy identified on chromosome 6q12–q16. Am J Hum Genet. 2001;68(1):241–246
  82. Chu G, Kranias EG. Phospholamban as a therapeutic modality in heart failure. Novartis Found Symp. 2006;274:156–171
  83. DeWitt MM, MacLeod HM, Soliven B, McNally EM. Phospholamban R14 deletion results in late-onset, mild, hereditary dilated cardiomyopathy. J Am Coll Cardiol. 2006;48(7):1396–1398
  84. Schonberger J, Wang L, Shin JT, et al. Mutation in the transcriptional coactivator EYA4 causes dilated cardiomyopathy and sensorineural hearing loss. Nat Genet. 2005;37(4):418–422
  85. Povey S, Attwood J, Chadwick B, et al. Report on the fifth international workshop on chromosome 9 held at Eynsham, Oxfordshire, UK, September 4–6, 1996. Ann Hum Genet. 1997;61(Pt 3):183–206
  86. Krajinovic M, Pinamonti B, Sinagra G, et al. Linkage of familial dilated cardiomyopathy to chromosome 9. In: Heart muscle disease study group. Am J Hum Genet. 57(4):1995;p. 846–852
  87. Olson TM, Illenberger S, Kishimoto NY, Huttelmaier S, Keating MT, Jockusch BM. Metavinculin mutations alter actin interaction in dilated cardiomyopathy. Circulation. 2002;105(4):431–437
  88. Maeda M, Holder E, Lowes B, Valent S, Bies RD. Dilated cardiomyopathy associated with deficiency of the cytoskeletal protein metavinculin. Circulation. 1997;95(1):17–20
  89. Vatta M, Mohapatra B, Jimenez S, et al. Mutations in Cypher/ZASP in patients with dilated cardiomyopathy and left ventricular non-compaction. J Am Coll Cardiol. 2003;42(11):2014–2027
  90. Daehmlow S, Erdmann J, Knueppel T, et al. Novel mutations in sarcomeric protein genes in dilated cardiomyopathy. Biochem Biophys Res Commun. 2002;298(1):116–120
  91. Knoll R, Hoshijima M, Hoffman HM, et al. The cardiac mechanical stretch sensor machinery involves a Z disc complex that is defective in a subset of human dilated cardiomyopathy. Cell. 2002;111(7):943–955
  92. Taylor MR, Slavov D, Gajewski A, et al. Thymopoietin (lamina-associated polypeptide 2) gene mutation associated with dilated cardiomyopathy. Human Mutat. 2005;26(6):566–574
  93. Carniel E, Taylor MR, Sinagra G, et al. Alpha-myosin heavy chain: a sarcomeric gene associated with dilated and hypertrophic phenotypes of cardiomyopathy. Circulation. 2005;112(1):54–59
  94. Villard E, Duboscq-Bidot L, Charron P, et al. Mutation screening in dilated cardiomyopathy: prominent role of the beta myosin heavy chain gene. Eur Heart J. 2005;26(8):794–803
  95. Erdmann J, Hassfeld S, Kallisch H, Fleck E, Regitz-Zagrose V. Genetic variants in the promoter (g983G > T) and coding region (A92T) of the human cardiotrophin-1 gene (CTF1) in patients with dilated cardiomyopathy. Human Mutat. 2000;16(5):448
  96. Murphy RT, Mogensen J, Shaw A, Kubo T, Hughes S, McKenna WJ. Novel mutation in cardiac troponin I in recessive idiopathic dilated cardiomyopathy. Lancet. 2004;363(9406):371–372
  97. Muntoni F, Cau M, Ganau A, et al. Brief report: deletion of the dystrophin muscle-promoter region associated with X-linked dilated cardiomyopathy. N Engl J Med. 1993;329(13):921–925
  98. Cohen N, Muntoni F. Multiple pathogenetic mechanisms in X linked dilated cardiomyopathy. Heart. 2004;90(8):835–841
  99. Spencer CT, Bryant RM, Day J, et al. Cardiac and clinical phenotype in Barth syndrome. Pediatrics. 2006;118(2):e337–e346
  100. Ichida F, Tsubata S, Bowles KR, et al. Novel gene mutations in patients with left ventricular noncompaction or Barth syndrome. Circulation. 2001;103(9):1256–1263
  101. Santorelli FM, Mak SC, El-Schahawi M, et al. Maternally inherited cardiomyopathy and hearing loss associated with a novel mutation in the mitochondrial tRNA(Lys) gene (G8363A). Am J Hum Genet. 1996;58(5):933–939
  102. 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):321–329
  103. Arbustini E, Diegoli M, Fasani R, et al. Mitochondrial DNA mutations and mitochondrial abnormalities in dilated cardiomyopathy. Am J Pathol. 1998;153(5):1501–1510
  104. Zeller R, Ivandic BT, Ehlermann P, et al. Large-scale mutation screening in patients with dilated or hypertrophic cardiomyopathy: a pilot study using DGGE. J Mol Med. 2006;84(8):682–691
  105. Hermida-Prieto M, Monserrat L, Castro-Beiras A, et al. Familial dilated cardiomyopathy and isolated left ventricular noncompaction associated with lamin A/C gene mutations. Am J Cardiol. 2004;94(1):50–54
  106. Finsterer J. Pancreatitis as a manifestation of mitochondrial disorder. Am J Med Genet Part A. 2007;43A:632–633
  107. Lin AE, Mitchell FM, Fitz RW, Doyle JJ. Dilated cardiomyopathy in myotonic dystrophy. J Am Coll Cardiol. 1989;13(1):262–263
  108. Melacini P, Buja G, Fasoli G, et al. The natural history of cardiac involvement in myotonic dystrophy: an eight-year follow-up in 17 patients. Clin Cardiol. 1988;11(4):231–238
  109. Shen EN, Madsen T. Facioscapulohumeral muscular dystrophy and recurrent pacemaker lead dislodgement. Am Heart J. 1991;122(4 Pt 1):1167–1169
  110. Goldfarb LG, Park KY, Cervenakova L, et al. Missense mutations in desmin associated with familial cardiac and skeletal myopathy. Nat Genet. 1998;19(4):402–403
  111. Michele DE, Albayya FP, Metzger JM. A nemaline myopathy mutation in alpha-tropomyosin causes defective regulation of striated muscle force production. J Clin Invest. 1999;104(11):1575–1581
  112. Buckley AE, Dean J, Mahy IR. Cardiac involvement in Emery Dreifuss muscular dystrophy: a case series. Heart. 1999;82(1):105–108
  113. Zatz M, Vainzof M, Passos-Bueno MR. Limb-girdle muscular dystrophy: one gene with different phenotypes, one phenotype with different genes. Curr Opin Neurol. 2000;13(5):511–517
  114. Muntoni F. Cardiomyopathy in muscular dystrophies. Curr Opin Neurol. 2003;16(5):577–583
  115. Lehnart SE, Wehrens XH, Kushnir A, Marks AR. Cardiac ryanodine receptor function and regulation in heart disease. Ann N Y Acad Sci. 2004;1015:144–159
  116. Lobrinus JA, Schorderet DF, Payot M, et al. Morphological, clinical and genetic aspects in a family with a novel LAMP-2 gene mutation (Danon disease). Neuromuscul Disord. 2005;15(4):293–298
  117. Perrot A, Spuler S, Geier C, Dietz R, Osterziel KJ. Cardiac manifestations of muscular dystrophies. Z Kardiol. 2005;94(5):312–320
  118. Jefferies JL, Eidem BW, Belmont JW, et al. Genetic predictors and remodeling of dilated cardiomyopathy in muscular dystrophy. Circulation. 2005;112(18):2799–2804
  119. Murakami T, Hayashi YK, Noguchi S, et al. Fukutin gene mutations cause dilated cardiomyopathy with minimal muscle weakness. Ann Neurol. 2006;60(5):597–602
  120. Hoffman JD, Jacobson Z, Young TL, Marshall JD, Kaplan P. Familial variable expression of dilated cardiomyopathy in Alstrom syndrome: a report of four sibs. Am J Med Genet Part A. 2005;135(1):96–98
  121. Yu CM, Chow LT, Sanderson JE. Dilated cardiomyopathy in Noonan's syndrome. Int J Cardiol. 1996;56(1):83–85
  122. Toydemir RM, Rutherford A, Whitby FG, Jorde LB, Carey JC, Bamshad MJ. Mutations in embryonic myosin heavy chain (MYH3) cause Freeman–Sheldon syndrome and Sheldon–Hall syndrome. Nat Genet. 2006;38(5):561–565
  123. Elbedour K, Zucker N, Zalzstein E, Barki Y, Carmi R. Cardiac abnormalities in the Bardet–Biedl syndrome: echocardiographic studies of 22 patients. Am J Med Genet. 1994;52(2):164–169
  124. Malouf J, Alam S, Kanj H, Mufarrij A, Der Kaloustian VM. Hypergonadotropic hypogonadism with congestive cardiomyopathy: an autosomal-recessive disorder?. Am J Med Genet. 1985;20(3):483–489
  125. Narahara K, Kamada M, Takahashi Y, et al. Case of ovarian dysgenesis and dilated cardiomyopathy supports existence of Malouf syndrome. Am J Med Genet. 1992;44(3):369–373
  126. Hunter AG. Coffin–Lowry syndrome: a 20-year follow-up and review of long-term outcomes. Am J Med Genet. 2002;111(4):345–355
  127. Massin MM, Radermecker MA, Verloes A, Jacquot S, Grenade T. Cardiac involvement in Coffin–Lowry syndrome. Acta Paediatr. 1999;88(4):468–470
  128. del Campo M, Hall BD, Aeby A, et al. Albinism and agenesis of the corpus callosum with profound developmental delay: Vici syndrome, evidence for autosomal recessive inheritance. Am J Med Genet. 1999;85(5):479–485
  129. Chiyonobu T, Yoshihara T, Fukushima Y, et al. Sister and brother with Vici syndrome: agenesis of the corpus callosum, albinism, and recurrent infections. Am J Med Genet. 2002;109(1):61–66
  130. Slavotinek A, Shaffer LG, Shapira SK. Monosomy 1p36. J Med Genet. 1999;36(9):657–663
  131. Mathur A, Sims HF, Gopalakrishnan D, et al. Molecular heterogeneity in very-long-chain acyl-CoA dehydrogenase deficiency causing pediatric cardiomyopathy and sudden death. Circulation. 1999;99(10):1337–1343
  132. Mohan UR, Hay AA, Cleary MA, Wraith JE, Patel RG. Cardiovascular changes in children with mucopolysaccharide disorders. Acta Paediatr. 2002;91(7):799–804
  133. Pierpont ME, Breningstall GN, Stanley CA, Singh A. Familial carnitine transporter defect: A treatable cause of cardiomyopathy in children. Am Heart J. 2000;139(2 Pt 3):S96–S106
  134. Schwartz ML, Cox GF, Lin AE, et al. Clinical approach to genetic cardiomyopathy in children. Circulation. 1996;94(8):2021–2038
  135. 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):407–411
  136. Baumgartner D, Scholl-Burgi S, Sass JO, et al. Prolonged QTc intervals and decreased left ventricular contractility in patients with propionic acidemia. J Pediatr. 2007;150(2):192–197
  137. Henry CG, Strauss AW, Keating JP, Hillman RE. Congestive cardiomyopathy associated with beta-ketothiolase deficiency. J Pediatr. 1981;99(5):754–757

PII: S1058-9813(07)00168-3

doi: 10.1016/j.ppedcard.2007.11.013

Progress in Pediatric Cardiology
Volume 25, Issue 1 , Pages 57-67 , April 2008

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