Primary myopathies and the heart

Scandinavian Cardiovascular Journal

Volumn 42, Issue 1, 2008, Pages 9-24

  Finsterer, Josef ^a,c   Stöllberger, Claudia ^b  

^a KRANKENANSTALT RUDOLFSTIFTUNG   (Austria)

^b Second Medical Department   (Austria)

^c NONE   (Austria)

Author keywords

Echocardiography; Electrocardiography; Electromyography; Genetics; Heart; Muscle; Neuromuscular disorders

Indexed keywords

ACETYLSALICYLIC ACID; AMIODARONE; BARBITURIC ACID DERIVATIVE; BETA ADRENERGIC RECEPTOR BLOCKING AGENT; BIGUANIDE DERIVATIVE; CARNITINE; CARVEDILOL; CHLORAMPHENICOL; DIGITALIS; DIPEPTIDYL CARBOXYPEPTIDASE INHIBITOR; DIURETIC AGENT; DOBUTAMINE; LOCAL ANESTHETIC AGENT; MILRINONE; PEROXISOME PROLIFERATOR ACTIVATED RECEPTOR AGONIST; PHENOTHIAZINE DERIVATIVE; POLOXAMER; STEROID; TETRACYCLINE DERIVATIVE; VALPROIC ACID; ZIDOVUDINE;

ADENOSINE MONOPHOSPHATE DEAMINASE DEFICIENCY; ATRIOVENTRICULAR BLOCK; BARTH SYNDROME; BETHLEM MYOPATHY; BIOCHEMISTRY; CARDIOMYOPATHY; CENTRAL CORE DISEASE; CENTRONUCLEAR MYOPATHY; CLINICAL FEATURE; CONGESTIVE CARDIOMYOPATHY; DEFIBRILLATOR; DESMIN MYOPATHY; DIAGNOSTIC PROCEDURE; DISTAL MYOPATHY; DUCHENNE MUSCULAR DYSTROPHY; ELECTROCARDIOGRAPHY; ELECTROMYOGRAPHY; EMERY DREIFUSS MUSCULAR DYSTROPHY; FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY; FATTY ACID OXIDATION DISORDER; GLYCOGEN STORAGE DISEASE; HEART ATRIUM FIBRILLATION; HEART DISEASE; HEART LEFT VENTRICLE FAILURE; HEREDITARY MOTOR SENSORY NEUROPATHY; HISTOLOGY; HUMAN; IMMUNOHISTOLOGY; LIMB GIRDLE MUSCULAR DYSTROPHY; MCLEOD SYNDROME; METABOLIC MYOPATHY; MUSCLE BIOPSY; MUSCULAR DYSTROPHY; MYOFIBRILLAR MYOPATHY; MYOPATHY; MYOTONIC DYSTROPHY; NEMALINE MYOPATHY; NERVE CONDUCTION; NONHUMAN; OUTCOME ASSESSMENT; PACEMAKER; PRIORITY JOURNAL; PROGNOSIS; RESPIRATORY CHAIN DISORDER; RESPIRATORY TRACT DISEASE; REVIEW; SENGER SYNDROME; TREATMENT WITHDRAWAL;

ANIMALS; CARDIOMYOPATHIES; EARLY DIAGNOSIS; HUMANS; MUSCULAR DISEASES; MYOCARDIUM; PREVALENCE; PROGNOSIS;

EID: 41549165160     PISSN: 14017431     EISSN: 16512006     Source Type: Journal    
DOI: 10.1080/14017430701854953     Document Type: Review

References (124)

1. Finsterer J, Stollberger C. Cardiac involvement in primary myopathies. Cardiology. 2000;94:1-11.
2. Funakoshi M, Tsuchiya Y, Arahata K. Emerin and cardiomyopathy in Emery-Dreifuss muscular dystrophy. Neuromusc Disord. 1999;9:108-14.
3. Finsterer J, Stollberger C, Blazek G. Neuromuscular implications in left ventricular hypertrabeculation/noncompaction. Int J Cardiol. 2006;110:288-300.
4. Srinivasan R, Hornyak JE, Badenhop DT, Koch LG. Cardiac rehabilitation after heart transplantation in a patient with Becker's muscular dystrophy: A case report. Arch Phys Med Rehabil. 2005;86:2059-61.
5. Day JW, Ricker K, Jacobsen JF, Rasmussen LJ, Dick KA, Kress W, et al. Myotonic dystrophy type 2: Molecular, diagnostic and clinical spectrum. Neurology. 2003;60:657-64.
6. Trevisan CP, Pastorello E, Armani M, Angelini C, Nante G, Tomelleri G, et al. Facioscapulohumeral muscular dystrophy and occurrence of heart arrhythmia. Eur Neurol. 2006;56:1-5.
7. Mavrogeni S, Tzelepis GE, Athanasopoulos G, Maounis T, Douskou M, Papavasiliou A, et al. Cardiac and sternocleidomastoid muscle involvement in Duchenne muscular dystrophy: An MRI study. Chest. 2005;127:143-8.
8. Cox GF, Kunkel LM. Dystrophies and heart disease. Curr Opin Cardiol. 1997;12:329-43.
9. Fatkin D, MacRae C, Sasaki T, Wolff MR, Porcu M, Hrenneaux M, 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;341:1715-24.
10. Ben Yaou R, Gueneau L, Demay L, Stora S, Chikhaoui K, Richard P, et al. Heart involvement in lamin A/C related diseases. Arch Mal Coeur Vaiss. 2006;99:848-55.
11. Sanna T, Dello Russo A, Toniolo D, Vytopil M, Pelargonio G, De Martino G, et al. Cardiac features of Emery-Dreifuss muscular dystrophy caused by lamin A/C gene mutations. Eur Heart J. 2003;24:2227-36.
12. Mercuri E, Brown SC, Nihoyannopoulos P, Poulton J, Kinali M, Richard P, et al. Extreme variability of skeletal and cardiac muscle involvement in patients with mutations in exon 11 of the lamin A/C gene. Muscle Nerve. 2005;31:602-9.
13. deVisser M, deVoogt WG, laRiviere GV. The heart in Becker muscular dystrophy, facioscapulohumeral dystrophy, and Bethlem myopathy. Muscle Nerve. 1992;15:591-6.
14. Galetta F, Franzoni F, Sposito R, Plantinga Y, Femia FR, Galluzzi F, et al. Subclinical cardiac involvement in patients with facioscapulohumeral muscular dystrophy. Neuromuscul Disord. 2005;15:403-8.
15. Finsterer J, Stollberger C, Meng G. Cardiac involvement in facioscapulohumeral muscular dystrophy. Cardiology. 2005;103:81-3.
16. Melacini P, Fanin M, Duggan DJ, Freda MP, Berardinelli A, Danieli GA, et al. Heart involvement in muscular dystrophies due to sarcoglycan gene mutations. Muscle Nerve. 1999:22:473-9.
17. Cagliani R, Bresolin N, Prelle A, Gallanti A, Fortunato F, Sironi M, et al. A CAV3 microdeletion differentially affects skeletal muscle and myocardium. Neurology. 2003;61:1513-9.
18. Boito CA, Melacini P, Vianello A, Prandini P, Gavassini BF, Bagattin A, et al. Clinical and molecular characterization of patients with limb-girdle muscular dystrophy type 2I. Arch Neurol. 2005;62:1894-9.
19. Poppe M, Bourke J, Eagle M, Frosk P, Wrogemann K, Greenberg C, et al. Cardiac and respiratory failure in limb-girdle muscular dystrophy 2I. Ann Neurol. 2004;56:738-41.
20. Barresi R, DiBlasi C, Negri T, Brugnoni R, Vitali A, Felisari G, et al. Disruption of heart sarcoglycan complex and severe cardiomyopathy caused by beta sarcoglycan mutations. J Med Genet. 2000;37:102-7.
21. Coral-Vazquez R, Cohn RD, Moore SA, Hill JA, Weiss RM, Davisson RL, et al. Disruption of the sarcoglycan-sarcospan complex in vascular smooth muscle: a novel mechanism for cardiomyopathy and muscle dystrophy. Cell. 1999;98:465-74.
22. Kuru S, Yasuma F, Wakayama T, Kimura S, Konagaya M, Aoki M, et al. A patient with limb girdle muscular dystrophy type 2B (LGMD2B) manifesting cardiomyopathy. Rinsho Shinkeigaku. 2004;44:375-8.
23. Calvo F, Teijeira S, Fernandez JM, Teijeiro A, Fernandez-Hojas R, Fernandez-Lopez XA, et al. Evaluation of heart involvement in gamma-sarcoglycanopathy (LGMD2C). A study of ten patients. Neuromuscul Disord. 2000;10:560-6.
24. Gaul C, Deschauer M, Tempelmann C, Vielhaber S, Klein HU, Heinze HJ, et al. Cardiac involvement in limb-girdle muscular dystrophy 2I: Conventional cardiac diagnostic and cardiovascular magnetic resonance. J Neurol. 2006;253:1317-22.
25. Muller T, Krasnianski M, Witthaut R, Deschauer M, Zierz S. Dilated cardiomyopathy may be an early sign of the C826A Fukutin-related protein mutation. Neuromuscul Disord. 2005;15:372-6.
26. Louhichi N, Triki C, Quijano-Roy S, Richard P, Makri S, Meziou M, et al. New FKRP mutations causing congenital muscular dystrophy associated with mental retardation and central nervous system abnormalities. Identification of a founder mutation in Tunisian families. Neurogenetics. 2004;5:27-34.
27. Toda T, Kobayashi K, Kondo-Iida E, Sasaki J, Nakamura Y. The Fukuyama congenital muscular dystrophy story. Neuromusc Disord. 2000;10:153-9.
28. Murakami T, Hayashi YK, Noguchi S, Ogawa M, Nonaka I, Tanabe Y, et al. Fukutin gene mutations cause dilated cardiomyopathy with minimal muscle weakness. Ann Neurol. 2006;60:597-602.
29. Spyrou N, Philpot J, Foale R, Camici PG, Muntoni F. Evidence of left ventricular dysfunction in children with merosin-deficient congenital muscular dystrophy. Am Heart J. 1998;136:474-6.
30. Pethig K, Manz F, Kuhn H. Hypertrophic non-obstructive cardiomyopathy in rigid spine syndrome. Z Kardiol. 1995;84:490-5.
31. Thornton C. The myotonic dystrophies. Sem Neurol. 1999;19:25-33.
32. Mahadevan MS, Yadava RS, Yu Q, Balijepalli S, Frenzel-McCardell CD, Bourne TD, et al. Reversible model of RNA toxicity and cardiac conduction defects in myotonic dystrophy. Nat Genet. 2006;38:1066-70.
33. Nakada T, Yonesaka S. 'Hypertrophic cardiomyopathy' in a girl with adult-type myotonic dystrophy. Pediatr Int. 1999;41:586-8.
34. Phillips MF, Harper PS. Cardiac disease in myotonic dystrophy. Cardiovasc Res. 1997;33:13-22.
35. Dello Russo A, Pelargonio G, Parisi Q, Santamaria M, Messano L, Sanna T, et al. Widespread electroanatomic alterations of right cardiac chambers in patients with myotonic dystrophy type 1. J Cardiovasc Electrophysiol. 2006;17:34-40.
36. Merlevede K, Vermander D, Theys P, Legius E, Ector H, Robberecht W. Cardiac involvement and CTG expansion in myotonic dystrophy. J Neurol. 2002;249:693-8.
37. Finsterer J, Stollberger C, Wegmann R, et al. Left ventricular hypertrabeculation in myotonic dystrophy type 1. Herz. 2001;26:287-90.
38. Vinereanu D, Bajaj BP, Fenton-May J, Rogers MT, Madler CF, Fraser AG. Subclinical cardiac involvement in myotonic dystrophy manifesting as decreased myocardial Doppler velocities. Neuromuscul Disord. 2004;14:188-94.
39. Di Leo R, Rodolico C, De Gregorio C, Recupero A, Coglitore S, Annesi G, et al. Cardiovascular autonomic control in myotonic dystrophy type 1: A correlative study with clinical and genetic data. Neuromuscul Disord. 2004;14:136-41.
40. Finsterer J, Gharehbaghi-Schnell E, Stollberger C, et al. Relation of cardiac abnormalities and CTG-repeat size in myotonic dystrophy. Clin Genet. 2001;59:350-5.
41. Groh WJ, Lowe MR, Simmons Z, Bhakta D, Pascuzzi RM. Familial clustering of muscular and cardiac involvement in myotonic dystrophy type 1. Muscle Nerve 2005;31:719-24.
42. Day JW, Roelofs R, Leroy B, Pech I, Benzow K, Ranum LPW. Clinical and genetic characteristics of a five-generation family with a novel form of myotonic dystrophy (DM2). Neuromusc Disord. 1999;9:19-27.
43. Day JW, Ricker K, Jacobsen JF, Rasmussen LJ, Dick KA, Kress W, et al. Myotonic dystrophy type 2: Molecular, diagnostic and clinical spectrum. Neurology. 2003;60:657-64.
44. Goebel HH. Congenital myopathies in the new millennium. J Child Neurol. 2005;20:94-101.
45. Michele DE, Albaya FP, Metzger JM. A nemaline myopathy mutation in alpha-tropomyosin causes defective regulation of striated muscle force production. J Clin Invest. 1999;104:1575-81.
46. Nowak KJ, Wattanasirichaigoon D, Goebel HH, Wilce M, Pelin K, Donner K, et al. Mutations in the skeletal muscle α-actin gene in patients with actin myopathy and nemaline myopathy. Nature Genetics. 1999;23:208-13.
47. D'Amico A, Graziano C, Pacileo G, Petrini S, Nowak KJ, Boldrini R, et al. Fatal hypertrophic cardiomyopathy and nemaline myopathy associated with ACTA1 K336E mutation. Neuromuscul Disord. 2006;16:548-52.
48. Muller-Hocker J, Schafer S, Mendel B, Lochmuller H, Pongratz D. Nemaline cardiomyopathy in a young adult: An ultraimmunohistochemical study and review of the literature. Ultrastruct Pathol. 2000;24:407-16.
49. Michele DE, Coutu P, Metzger JM. Divergent abnormal muscle relaxation by hypertrophic cardiomyopathy and nemaline myopathy mutant tropomyosins. Physiol Genomics. 2002;9:103-11.
50. Fujita K, Nakano S, Yamamoto H, Ito H, Ito H, Goto Y, Kusaka H. An adult case of congenital fiber type disproportion (CFTD) with cardiomyopathy. Rinsho Shinkeigaku. 2005;45:380-2.
51. Benkusky NA, Farrell EF, Valdivia HH. Ryanodine receptor channelopathies. Biochem Biophys Res Commun. 2004;322:1280-5.
52. Al-Ruwaishid A, Vajsar J, Tein I, Benson L, Jay V. Centronuclear myopathy and cardiomyopathy requiring heart transplant. Brain Dev. 2003;25:62-6.
53. Carlsson L, Thornell LE. Desmin-related myopathies in mice and man. Acta Physiol Scand. 2001;171:341-8.
54. Arbustini E, Morbini P, Grasso M, Fasani R, Verga L, Bellini O, et al. Restrictive cardiomyopathy, atrioventricular block and to subclinical myopathy in patients with desminimmunoreactive material deposits. J Am Coll Cardiol. 1998;31:645-53.
55. Selcen D, Engel AG.Mutations in ZASP define a novel form of muscular dystrophy in humans. Ann Neurol. 2005;57:269-76.
56. Vatta M, Mohapatra B, Jimenez S, Sanchez X, Faulkner G, Perles Z, et al. Mutations in Cypher/ZASP in patients with dilated cardiomyopathy and left ventricular non-compaction. J Am Coll Cardiol. 2003;42:2014-27.
57. El-Menyar AA, Al-Suwaidi J, Gehani AA, Bener A. Clinical and histologic studies of a Qatari family with myofibrillar myopathy. Saudi Med J. 2004;25:1723-6.
58. Nishino I, Malicdan MC, Murayama K, Nonaka I, Hayashi YK, Noguchi S. Molecular pathomechanism of distal myopathy with rimmed vacuoles. Acta Myol. 2005;24:80-3.
59. Kaplan J-C, Fontain B. Neuromuscular disorders: Gene location. Neuromusc Disord. 2006;16:64-90.
60. Stöllberger C, Finsterer J, Bittner RE. Angina for 14 years. Lancet. 1997;349:1292.
61. Regalado JJ, Rodriguez MM, Ferrer PL. Infantile hypertrophic cardiomyopathy of glycogenosis type IX: Isolated cardiac phosphorylase kinase deficiency. Pediatr Cardiol. 1999;20:304-7.
62. Metzl JD, Elias ER, Berul CI. An interesting case of infant sudden death: Severe hypertrophic cardiomyopathy in Pompe's disease. Pacing Clin Electrophysiol. 1999;22:821-2.
63. Ewert R, Gulijew A, Wensel R, Dandel M, Hummel M, Vogel M, et al. Glycogenosis type IV as a seldom cause of cardiomyopathy - report about a successful heart transplantation. Z Kardiol. 1999;88:850-6.
64. Fanin M, Nascimbeni AC, Fulizio L, Spinazzi M, Melacini P, Angelini C, et al. Generalized lysosome-associated membrane protein-2 defect explains multisystem clinical involvement and allows leukocyte diagnostic screening in Danon disease. Am J Pathol. 2006;168:1309-20.
65. Balmer C, Ballhausen D, Bosshard NU, Steinmann B, Boltshauser E, Bauersfeld U, et al. Familial X-linked cardiomyopathy (Danon disease): diagnostic confirmation by mutation analysis of the LAMP2gene. Eur J Pediatr. 2005;164:509-14.
66. Morisawa Y, Fujieda M, Murakami N, Naruse K, Okada T, Morita H, et al. Lysosomal glycogen storage disease with normal acid maltase with early fatal outcome. J Neurol Sci. 1998;160:175-9.
67. Eskelinen EL. Roles of LAMP-1 and LAMP-2 in lysosome biogenesis and autophagy. Mol Aspects Med 2006;27:495-502.
68. Stanley CA. Carnitine deficiency disorders in children. Ann N Y Acad Sci. 2004;1033:42-51.
69. Bonnet D, Martin D, Pascale De Lonlay, Villain E, Jouvet P, Rabier D, et al. Arrhythmias and conduction defects as presenting symptoms of fatty acid oxidation disorders in children. Circulation. 1999;100:2248-53.
70. Lamhonwah AM, Tein I. Novel localization of OCTN1, an organic cation/carnitine transporter, to mammalian mitochondria. Biochem Biophys Res Commun. 2006;345:1315-25.
71. Asai T, Okumura K, Takahashi R, Matsui H, Numaguchi Y, Murakami H, et al. Combined therapy with PPARalpha agonist and L-carnitine rescues lipotoxic cardiomyopathy due to systemic carnitine deficiency. Cardiovasc Res. 2006;70:566-77.
72. Hou JW. Primary systemic carnitine deficiency presenting as recurrent Reye-like syndrome and dilated cardiomyopathy. Chang Gung Med J. 2002;25:832-7.
73. Orngreen MC, Duno M, Ejstrup R, Christensen E, Schwartz M, Sacchetti M, et al. Fuel utilization in subjects with carnitine palmitoyltransferase 2 gene mutations. Ann Neurol. 2005;57:60-6.
74. Oey NA, den Boer ME, Wijburg FA, Vekemans M, Auge J, Steiner C, et al. Long-chain fatty acid oxidation during early human development. Pediatr Res. 2005;57:755-9.
75. Mathur A, Sims HF, Gopalakrishnan D, Gibson B, Rinaldo P, Vockley J, et al. Molecular heterogeneity in very-longchain acyl-CoA dehydrogenase deficiency causing pediatric cardiomyopathy and sudden death. Circulation. 1999;99:1337-43.
76. Leonard JV, AHV Shapira. Mitochondrial respiratory chain disorders I: Mitochondrial DNA defects. Lancet. 2000;355:299-304.
77. Bonnet D, Rustin P, Rotig A, Le Bidois J, Munnich A, Vouhe P, et al. Heart transplantation in children with mitochondrial cardiomyopathy. Heart. 2001;86:570-3.
78. Finsterer J, Stöllberger C. Hypertrabeculated left ventricle in mitochondriopathy. Heart. 1998;80:632.
79. Houstek J, Klement P, Floryk D, Antonicka H, Hermanska J, Kalous M, et al. A novel deficiency of mitochondrial ATPase of nuclear origin. Hum Mol Genet. 1999;8:1967-74.
80. Wallace DC. Mitochondrial defects in cardiomyopathy and neuromuscular disease. Am Heart J. 2000;139:70-85.
81. Stöllberger C, Finsterer J. Disappearance of left ventricular hypertrabeculation/noncompaction after biventricular pacing in a patient with neuromuscular disorder. J Card Fail. 2007;(in press)
82. Ozawa E, Noguchi S, Mizuno Y, Hagiwara Y, Yoshida M. From dystrophinopathy to sarcoglycanopathy: Evolution of a concept of muscular dystrophy. Muscle Nerve. 1998;21:421-38.
83. Skyllouriotis ML, Marx M, Bittner RE, Skyllouriotis P, Gross M, Wimmer M. Myoadenylate deaminase deficiency, hypertrophic cardiomyopathy and gigantism syndrome. Pediatr Neurol. 1997;17:61-6.
84. Sharer JD. The adenine nucleotide translocase type 1 (ANT1): A new factor in mitochondrial disease. IUBMB Life. 2005;57:607-14.
85. Atiq M, Iqbal S, Ibrahim S. Sengers disease: A rare association of hypertrophic cardiomyopathy and congenital cataracts. Indian J Pediatr. 2004;71:437-40.
86. Bleyl SB, Mumford BR, Brown-Harrison MC, Pagotto LT, Carey JC, Pysher TJ, et al. Xq28-linked noncompaction of the left ventricular myocardium: Prenatal diagnosis and pathologic analysis of affected individuals. Am J Med Genet. 1997;72:257-65.
87. Brady AN, Shehata BM, Fernhoff PM. X-linked fetal cardiomyopathy caused by a novel mutation in the TAZ gene. Prenat Diagn. 2006;26:462-5.
88. Chicco AJ, Sparagna GC. Role of cardiolipin alterations in mitochondrial dysfunction and disease. Am J Physiol Cell Physiol. 2007;292:C33-C44.
89. Spencer CT, Bryant RM, Day J, Gonzalez IL, Colan SD, Thompson WR, et al. Cardiac and clinical phenotype in Barth syndrome. Pediatrics. 2006;118:e337-e346.
90. Merlini L, Villanova M, Sabatelli P, Malandrini A, Maraldi NM. Decreaed expression of laminin beta 1 in chromosome 21-linked Bethlem myopathy. Neuromusc Disord. 1999;9:326-9.
91. Sewry CA, Muntoni F. Inherited disorders of the extracellular matrix. Curr Opin Neurol. 1999;12:519-26.
92. van der Kooi AJ, de Voogt WG, Bertini E, Merlini L, Talim FB, Ben Yaou R, et al. Cardiac and pulmonary investigations in Bethlem myopathy. Arch Neurol. 2006;63:1617-21.
93. Jung HH, Brandner S. Malignant McLeod myopathy. Muscle Nerve. 2002;26:424-7.
94. Danek A, Rubio JP, Rampoldi L, Ho M, Dobson-Stone C, Tison F, et al. McLeod neuroacanthocytosis: Genotype and phenotype. Ann Neurol. 2001;50:755-64.
95. Witt TN, Danek A, Reiter M, Heim MU, Dirschinger J, Olsen EG, et al. McLeod syndrome: A distinct form of neuroacanthocytosis. Report of two cases and literature review with emphasis on neuromuscular manifestations. J Neurol. 1992;239:302-6.
96. Koul RL, Chand RP, Chacko A, Ali M, Brown KM, Bushnarmuth SR, et al. Severe autosomal recessive rippling muscle disease. Muscle Nerve. 2001;24:1542-7.
97. Finsterer J. Central nervous system manifestations of mitochondrial disorders. Acta Neurol Scand. 2006;114:217-38.
98. Cripe LH, Barber BJ, Spicer RL, Wong BL, Weidner N, Benson DW, et al. Outpatient continuous inotrope infusion as an adjunct to heart failure therapy in Duchenne muscular dystrophy. Neuromuscul Disord. 2006;16:745-8.
99. Biggar WD, Harris VA, Eliasoph L, Alman B. Long-term benefits of deflazacort treatment for boys with Duchenne muscular dystrophy in their second decade. Neuromuscul Disord. 2006;16:249-55.
100. Markham LW, Spicer RL, Khoury PR, Wong BL, Mathews KD, Cripe LH, et al. Steroid therapy and cardiac function in Duchenne muscular dystrophy. Pediatr Cardiol. 2005;26:768-71.
101. Jefferies JL, Eidem BW, Belmont JW, Craigen WJ, Ware SM, Fernbach SD, et al. Genetic predictors and remodeling of dilated cardiomyopathy in muscular dystrophy. Circulation. 2005;112:2799-804.
102. Onder G, Vedova CD, Pahor M. Effects of ACE inhibitors on skeletal muscle. Curr Pharm Des. 2006;12:2057-64.
103. Longo N, Amat di San Filippo C, Pasquali M. Disorders of carnitine transport and the carnitine cycle. Am J Med Genet C Semin Med Genet. 2006;142:77-85.
104. Klinge L, Straub V, Neudorf U, Schaper J, Bosbach T, Gorlinger K, et al. Safety and efficacy of recombinant acid alpha-glucosidase (rhGAA) in patients with classical infantile Pompe disease: Results of a phase II clinical trial. Neuromuscul Disord. 2005;15:24-31.
105. Ansong AK, Li JS, Nozik-Grayck E, Ing R, Kravitz RM, Idriss SF, et al. Electrocardiographic response to enzyme replacement therapy for Pompe disease. Genet Med. 2006;8:297-301.
106. Haller RG, Wyrick P, Taivassalo T, Vissing J. Aerobic conditioning: an effective therapy in McArdle's disease. Ann Neurol. 2006;59:922-8.
107. Townsend D, Yasuda S, Metzger J. Cardiomyopathy of Duchenne muscular dystrophy: Pathogenesis and prospect of membrane sealants as a new therapeutic approach. Expert Rev Cardiovasc Ther. 2007;5:99-109.
108. Jalil MA, Horiuchi M, Wakamatsu M, Li MX, Begum L, Suzuki K, et al. Attenuation of cardiac hypertrophy in carnitine-deficient juvenile visceral steatosis (JVS) mice achieved by lowering dietary lipid. J Biochem (Tokyo). 2006;139:263-70.
109. Zipes DP, Camm AJ, Borggrefe M, Buxton AE, Chaitman B, Fromer M, et al. American College of Cardiology/American Heart Association Task Force; European Society of Cardiology Committee for Practice Guidelines; European Heart Rhythm Association and the Heart Rhythm Society. ACC/AHA/ESC 2006 guidelines for management of patients with ventricular arrhythmias and the prevention of sudden cardiac death-executive summary: A report of the American College of Cardiology/American Heart Association Task Force and the European Society of Cardiology Committee for Practice Guidelines (Writing Committee to Develop Guidelines for Management of Patients with Ventricular Arrhythmias and the Prevention of Sudden Cardiac Death) Developed in collaboration with the European Heart Rhythm Association and the Heart Rhythm Society. Eur Heart J. 2006;27:2099-140.
110. Park OY, Ahn Y, Park WS, Lim JH, Park HW, Kim JH, et al. Rapid progression from hypertrophic cardiomyopathy to heart failure in a patient with Becker's muscular dystrophy. Eur J Heart Fail. 2005;7:684-8.
111. Muller JS, Piko H, Schoser BG, Schlotter-Weigel B, Reilich P, Gurster S, et al. Novel splice site mutation in the caveolin-3 gene leading to autosomal recessive limb girdle muscular dystrophy. Neuromuscul Disord. 2006;16:432-6.
112. Ohkubo M, Ino T, Shimazaki S, Yabuto K, Okada R, Sato T. Multicore myopathy associated with multiple pterygium syndrome and hypertrophic cardiomyopathy. Pediatr Cardiol. 1996;17:53-6.
113. Sekijima Y, Ikeda S, Katai S, Matsuda M, Hashimoto T, Haruta S, et al. Cytoplasmic body myopathy with hypertrophic cardiomyopathy. Intern Med. 1995;34:166-70.
114. Case LE, Kishnani PS. Physical therapy management of Pompe disease. Genet Med. 2006;8:318-27.
115. Scaglia F, Towbin JA, Craigen WJ, Belmont JW, Smith EO, Neish SR, et al. Clinical spectrum, morbidity, and mortality in 113 pediatric patients with mitochondrial disease. Pediatrics. 2004;114:925-31.
116. Schroder JM, May R, Shin YS, Sigmund M, Nase-Huppmeier S. Juvenile hereditary polyglucosan body disease with complete branching enzyme deficiency (type IV glycogenosis). Acta Neuropathol (Berl). 1993;85:419-30.
117. DeAdamo P, Fassone L, Gedeon A, Janssen EAM, Bione S, Bolhuis PA, et al. The X-linked gene G4.5 is responsible for different infantile dilated cardiomyopathies. Am J Hum Genet. 1997;61:862-7.
118. Willemsen MA, van Oort AM, ter Laak HJ, Sengers RC, Gabreels FJ. Multicore myopathy with restrictive cardiomyopathy. Acta Paediatr. 1997;86:1271-4.
119. Ishiwata S, Nishiyama S, Seki A, Kojima S. Restrictive cardiomyopathy with complete atrioventricular block and distal myopathy with rimmed vacuoles. Jpn Circ J. 1993;57:928-33.
120. Campos Y, Martin MA, Caballero C, Rubio JC, de la Cruz F, Tunon T, et al. Single large-scale mitochondrial DNA deletion in a patient with encephalopathy, cardiomyopathy, and prominent intestinal pseudo-obstruction. Neuromuscul Disord. 2000;10:56-8.
121. Berger PB, Duffy J, Reeder GS, Karon BL, Edwards WD. Restrictive cardiomyopathy associated with the eosinophiliamyalgia syndrome. Mayo Clin Proc. 1994;69:162-5.
122. Finsterer J, Stollberger C, Gaismayer K, Janssen B. Acquired noncompaction in Duchenne muscular dystrophy. Int J Cardiol. 2006;106:420-1.
123. Ichida F, Tsubata S, Bowles KR, Haneda N, Uese K, Miyawaki T. Novel gene mutations in patients with left ventricular noncompaction or Barth syndrome. Circulation. 2001;103:1256-63.
124. Chebel S, Ben Hamda K, Boughammoura A, Frih Ayed M, Ben Farhat MH. Cardiac involvement in Steinert's myotonic dystrophy. Rev Neurol (Paris). 2005;161:932-9.