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Nervenheilkunde 2004; 23(08): 457-464
DOI: 10.1055/s-0038-1626411
DOI: 10.1055/s-0038-1626411
Original- und Übersichtsarbeiten - Original and Review Articles
Kardiale Beteiligung bei hereditären und erworbenen Muskelerkrankungen
Cardiac involvement in hereditary and acquired muscle diseasesFurther Information
Publication History
Publication Date:
19 January 2018 (online)
Zusammenfassung
Die Skelettmuskulatur und der Herzmuskel sind zwei anatomisch eindeutig voneinander zu unterscheidende Gewebe, die dennoch verschiedene Gemeinsamkeiten aufweisen. Erkrankungen mit primärem Befall der Skelettmuskulatur können deshalb auch zur Manifestation kardialer Symptome führen und umgekehrt. Obgleich bei Myopathien häufig Paresen und Atrophien bzw. Myalgien im Vordergrund der Beschwerden stehen, können kardiale Symptome einen erheblichen Einfluss auf die Lebensqualität und -erwartung besitzen und in Einzelfällen das klinische Bild dominieren. In der vorliegenden Arbeit werden diejenigen hereditären und erworbenen Muskelkrankheiten aufgeführt, bei denen eine Herzbeteiligung bekannt ist.
Summary
Although the skeletal muscle and the heart are two anatomical distinct tissues, they have several similarities. Primary myogenic disorders may have a cardiac involvement and vice versa. Weakness, muscular atrophy and myalgias are the most important symptoms in myopathies. However, cardiac involvement in myopathies may have a wide influence on quality of life and on life expectancy. In this paper hereditary and acquired muscle diseases with cardiac involvement are presented.
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Literatur
- 1 Amit R, Bashan N, Abarbanel JM, Shapira Y, Sofer S, Moses S. Fatal familial infantile glycogen storage disease: multisystem phosphofructokinase deficiency. Muscle Nerve 1992; 15: 455-8.
- 2 Anan R, Nakagawa M, Miyata M, Higuchi I, Nakao S, Suehara M, Osame M, Tanaka H. Cardiac involvement in mitochondrial diseases. A study on 17 patients with documented mitochondrial DNA defects. Circulation 1995; 91: 955-61.
- 3 Andelfinger G, Tapper AR, Welch RC, Vanoye CG, George Jr AL, Benson DW. KCNJ2 mutation results in Andersen syndrome with sexspecific cardiac and skeletal muscle phenotypes. Am J Hum Genet 2002; 71: 663-8.
- 4 Ashwal S, Peckham N. Myoadenylate deaminase deficiency in children. Pediatr Neurol 1985; 01: 185-91.
- 5 Askari AD, Huettner TL. Cardiac abnormalities in polymyositis/dermatomyositis. Sem Arthr Rheumat 1982; 12: 208-19.
- 6 Ationu A, Humphries A. The feasibility of replacement therapy for inherited disorder of glycolysis: triosephosphate isomerase deficiency. Int J Mol Med 1998; 02: 701-4.
- 7 Banwell BL, Becker LE, Jay V, Taylor GP, Vajsar J. Cardiac manifestations of congenital fiber-type disproportion myopathy. J Child Neurol 1999; 14: 83-7.
- 8 Barth PG, Wanders RJ, Vreken P, Janssen EA, Lam J. Baas F X-linked cardioskeletal myopathy and neutropenia (Barth syndrome) (MIM 302060). J Inherit Metab Dis 1999; 22: 555-67.
- 9 Bonnet D, Martin D, Pascale De Lonlay, 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: 2248-53.
- 10 Boriani G, Gallina M, Merlini L, Bonne G, Toniolo D, Amati S, Biffi M, Martignani C, Frabetti L, Bonvincini M, Rapezzi C, Branzi A. Clinical relevance of atrial fibrillation/flutter, stroke, pacemaker implant, and heart failure in Emery-Dreifuss muscular dystrophy. A long term study. Stroke 2003; 34: 901-8.
- 11 Brodsky GL, Muntoni F, Miocic S, Sinagra G, Sewry C, Mestroni L. Lamin A/C gene mutation associated with dilated cardiomyopathy with variable skeletal muscle involvement. Circulation 2000; 101: 473-6.
- 12 Brottier L, Coste P, Combe C, Bruchere C, Bonnet J, Bricaud H. Cardiac complications of dermatopolymyositis. Apropos of 56 cases. Arch Mal Coeur Vaiss 1987; 80: 1133-8.
- 13 Buchpiguel CA, Roizemblatt S, Pastor EH, Hironaka FH, Cossermelli W. Cardiac and skeletal muscle scintigraphy in dermatoand polymyositis: clinical implications. Eur J Nucl Med 1996; 23: 199-203.
- 14 Buckley AE, Dean J, Mahy IR. Cardiac involvement in Emery-Dreifuss muscular dystrophy: a case series. Heart 1999; 82: 105-8.
- 15 Bulkley BH, Hutchins GM. Pompe’s disease presenting as hypertrophic myocardiopathy with Wolff-Parkinson-White syndrome. Am Heart J 1978; 96: 246-52.
- 16 Buruma OJ, Schipperheyn JJ, Bots GT. Heart muscle disease in familial hypokalaemic periodic paralysis. Acta Neurol Scand 1981; 64: 12-21.
- 17 Bushby K, Muntoni F, Bourke JP. The management of cardiac involvement in muscular dystrophy and myotonic dystrophy: 107th ENMC international workshop. Neuromusc Disord 2003; 13: 166-72.
- 18 Caforio ALP, Rossi B, Risaliti R, Siciliano G, Marchetti A, Corrado A, Crea F, Mariani M, Muratorio C. Type 1 fiber abnormalities in skeletal muscle of patients with hypertrophic and dilated cardiomyopathy: Evidence of subclinical myogenic myopathy. J Am Coll Cardiol 1989; 14: 1464-73.
- 19 Corrado G, Lissoni A, Beretta S, Terenghi L, Tadeo G, Foglia-Manzillo G, Tagliagambe LM, Spata M, Santarone M. Prognostic value of electrocardiograms, ventricular late potentials, ventricular arrhythmias, and left ventricular systolic dysfunction in patients with Duchenne muscular dystrophy. Am J Cardiol 2002; 89: 838-41.
- 20 Dalakas MC. Polymyositis, dermatomyositis, and inclusion-body myositis. New Engl J Med 1991; 325: 1487-98.
- 21 Day JW, Ricker K, Jacobsen JF, Rasmussen LJ, Dick KA, Kress W, Schneider C, Koch MC, Beilman GJ, Harrison AR, Dalton JC, Ranum LP. Myotonic dystrophy type 2: molecular, diagnostic and clinical spectrum. Neurology 2003; 60: 657-64.
- 22 de Visser M. The heart in Becker muscular dystrophy, facioscapulohumeral dystrophy, and Bethlem myopathy. Muscle Nerve 1992; 15: 591-6.
- 23 Dobkin BH, Verity MA. Familial neuromuscular disease with type 1 fiber hypoplasia, tubular aggregates, cardiomyopathy, and myasthenic features. Neurology 1978; 28: 1135-40.
- 24 Durbeej M, Campbell KP. Muscular dystrophies involving the dystrophin-glycoprotein complex: an overview of current mouse models. Curr Opin Genet Dev 2002; 12: 349-61.
- 25 Emery AEH. Abnormalities of the electrocardiogram in hereditary myopathies. J Med Genet 1972; 09: 8-12.
- 26 Emery AEH. Emery-Dreifuss muscular dystrophy – a 40 year retrospective. Neuromusc Disord 2000; 10: 228-32.
- 27 Fanin M, Melacini P, Boito C, Pegoraro E, Angelini C. LGMD2E patients risk developing dilated cardiomyopathy. Neuromusc Disord 2003; 13: 303-9.
- 28 Felice KJ, North WA. Inclusion body myositis in Connecticut. Observations in 35 patients during a 8-year period. Medicine 2001; 80: 320-7.
- 29 Ferreiro A, Estournet B, Chateau D, Romero NB, Laroche C, Odent S, Toutain A, Cabello A, Fontan D, dos Santos HG, Haenggeli CA, Bertini E, Urtibeea JA, Guicheney P, Fardeau M. Multi-Minicore disease searching for boundaries: phenotype analysis of 38 cases. Ann Neurol 2000; 48: 745-57.
- 30 Finsterer J, Stöllberger C, Blazek G, Spahits E. Cardiac involvement in myotonic dystrophy, Becker muscular dystrophy and mitochondrial myopathy: A five year follow-up. Can J Cardiol 2001; 17: 1061-9.
- 31 Finsterer J, Gharehbaghi-Schnell E, Stöllberger C, Fheodoroff K, Seiser A. Relation of cardiac abnormalities and CTG-repeat size in myotonic dystrophy. Clin Genet 2001; 59: 350-5.
- 32 Finsterer J, Stollberger C, Michaela J. Familial left ventricular hypertrabeculation in two blind brothers. Cardiovasc Pathol 2002; 11: 146-8.
- 33 Finsterer J, Stöllberger C. The heart in human dystrophinopathies. Cardiology 2003; 99: 1-19.
- 34 Fragola PV, Luzi M, Calo L, Antonini G, Borzi M, Frongillo D, Cannata D. Cardiac involvement in myotonic dystrophy. Am J Cardiol 1994; 74: 1070-2.
- 35 Francesconi M, Auff E. Cardiac arrhythmias and the adult form of type II glycogenosis. N Engl J Med 1982; 306: 937-8.
- 36 Funakoshi M, Tsuchiya Y, Arahata K. Emerin and cardiomyopathy in Emery-Dreifuss muscular dystrophy. Neuromusc Disord 1999; 09: 108-14.
- 37 Goldfarb LG, Vicart P, Goebel HH, Dalakas MC. Desmin myopathy. Brain 2004; 127: 723-34.
- 38 Gonzalez-Lopez L, Gamez-Nava JI, Sanchez L, Rosas E, Suarez-Almazor M, Cardona-Munoz C, Ramos-Remus C. Cardiac manifestations in dermato-polymyositis. Clin Exp Rheumatol 1996; 14: 373-9.
- 39 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; 11: 186-91.
- 40 Hayashi Y, Ikeda U, Kojo T, Nishinaga M, Miyashita H, Kuroda T, Inoue K, Nishizawa M, Shimada K. Cardiac abnormalities and CTG trinucleotid repeats in myotonic dystrophy. Am Heart J 1997; 134: 292-7.
- 41 Hoogerwaard EM, de Voogt WG, Wilde AAM, van der Wouw PA, Bakker E, van Ommen GJB, de Visser M. Evolution of cardiac abnormalities in Becker muscular dystrophy over a 13-year period. J Neurol 1997; 244: 657-63.
- 42 Hoogerwaard EM, van der Wouw PA, Wilde AA, Bakker E, Ippel PF, Oosterwijk JC, Majoor-Krakauer DF, van Essen AJ, Leschot NJ, de Visser M. Cardiac involvement in carriers of Duchenne and Becker muscular dystrophy. Neuromuscul Disord 1999; 09: 347-51.
- 43 Igarashi H, Momoi MY, Yamagata T, Shiraishi H, Eguchi I. Hypertrophic cardiomyopathy in congenital myotonic dystrophy. Pediatr Neurol 1998; 18: 366-9.
- 44 Ishikawa Y, Bach JR, Ishikawa Y, Minami R. A management trial for Duchenne cardiomyopathy. Am J Phys Med Rehabil 1995; 74: 345-50.
- 45 Jones KJ, Morgan G, Johnston H, Tobias V, Ouvrier RA, Wilkinson I, North KN. The expanding phenotype of laminin alpha2 chain (merosin) abnormalities: case series and review. J Med Genet 2001; 38: 649-57.
- 46 Kaneda D, Sugie K, Yamamoto A, Matsumoto H, Kato T, Nonaka I, Nishino I. A novel form of autophagic vacuolar myopathy with late-onset and multiorgan involvement. Neurology 2003; 61: 128-31.
- 47 Kearns TP, Sayre GP. Retinitis pigmentosa, external ophthalmophegia, and complete heart block: unusual syndrome with histologic study in one of two cases. Am Arch Opthalmol 1958; 60: 280-9.
- 48 Koul RL, Chand RP, Chacko A, Ali M, Brown KM, Bushnarmuth SR, Escolar DM, Stephan DA. Severe autosomal recessive rippling muscle disease. Muscle Nerve 2001; 24: 1542-7.
- 49 Krasnianski M, Neudecker S, Deschauer M, Zierz S. Klinisches Spektrum der Gliedergürtelmuskeldystrophie Typ 2I bei Mutation im “Fuktutin-related Protein”. Nervenarzt. 2004 DOI: 10.1007/s00115-004-1726-3.
- 50 Laforet P, de Toma C, Eymard B, Becane HM, Jeanpierre M, Fardeau M, Duboc D. Cardiac involvement in genetically confirmed facioscapulohumeral muscular dystrophy. Neurology 1998; 51: 1454-6.
- 51 Lev D, Nissenkorn A, Leshinsky-Silver E, Sadeh M, Zeharia A, Garty BZ, Blieden L, Barash V, Lerman-Sagie T. Clinical Presentations of Mitochondrial Cardiomyopathies. Pediatr Cardiol. 2004 DOI: 10.1007/s00246-003-0490-7.
- 52 Loh E, Rebbeck TR, Mahoney PD, DeNofrio D, Swain JL, Holmes EW. Common variant in AMPD1 gene predicts improved clinical outcome in patients with heart failure. Circulation 1999; 99: 1422-5.
- 53 Lotz BP, Engel AG, Nishino H, Stevens JC, Litchy WJ. Inclusion body myositis. Observations in 40 patients. Brain 1989; 112: 727-47.
- 54 Markesbery WR, Griggs RC, Leach RP, Lapham LW. Late onset hereditary distal myopathy. Neurology 1974; 24: 127-34.
- 55 Melberg A, Oldfors A, Blomstrom-Lundqvist C, Stalberg E, Carlsson B, Larsson E, Lidell C, Eeg-Olofsson KE, Wikstrom G, Henriksson KG, Dahl N. Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy linked to chromosome 10q. Ann Neurol 1999; 46: 684-92.
- 56 Mercuri E, Brockongton M, Straub V, QuijanoRoy S, Yuva Y, Herrmann R, Brown SC, Torelli S, Dubowitz V, Blake DJ, Romero NB, Estournet B, Sewry CA, Guicheney P, Voit T, Muntoni F. Phenotypic spectrum associated with mutations in the fuktutin-related protein gene. Ann Neurol 2003; 53: 537-42.
- 57 Messina DN, Speer MC, Vance MAPericak, McNally EM. Linkage of familial dilated cardiomyopathy with conduction defect and muscular dystrophy to chromosome 6q23. Am J Hum Genet 1997; 61: 909-17.
- 58 Mimaki M, Ikota A, Sato A, Komaki H, Akanuma J, Nonaka I, Goto Y. A double mutation (G11778A and G12192A) in mitochondrial DNA associated with Leber’s hereditary optic neuropathy and cardiomyopathy. J Hum Genet 2003; 48: 47-50.
- 59 Muntoni F. Cardiomyopathy in muscular dystrophies. Curr Opin Neurol 2003; 16: 577-83.
- 60 Moses SW, Wanderman KL, Myroz A, Frydman M. Cardiac involvement in glycogen storage disease type III. Eur J Pediatr 1989; 148: 764-6.
- 61 Müller-Höcker J, Schäfer S, Mendel B, Lochmüller H, Pongratz D. Nemaline cardiomyopathy in a young adult: an ultraimmu-nohistochemical study and review of the literature. Ultrastruct Pathol 2000; 24: 407-16.
- 62 Nagamachi S, Inoue K, Jinnouchi S, Hoshi H, Ono S, Ohnisi T, Futami S, Watanabe K, Hayashi T. Cardiac involvement of progressive muscular dystrophy (Becker type, Limb-girdle type and Fukuyama type) valuated by adionuclide method. Ann Nucl Med 1994; 08: 71-4.
- 63 Nicholls DP, Campbell NP, Stevenson HP, Patterson VH. Angina in McArdle’s disease. Heart 1996; 76: 372-3.
- 64 Nolan MA, Jones ODH, Pedersen RL, Johnston HM. Cardiac assessment in childhood carriers of Duchenne and Becker muscular dystrophies. Neuromusc Disord 2003; 13: 129-32.
- 65 Noori S, Acherman R, Siassi B, Luna C, Ebrahimi M, Pavlova Z, Ramanathan R. A rare presentation of Pompe disease with massive hypertrophic cardiomyopathy at birth. J Perinat Med 2002; 30: 517-21.
- 66 Okajima Y, Tanabe Y, Takayanagi M, Aotsuka H. A follow up study of myocardial involvement in patients with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS). Heart 1998; 80: 292-5.
- 67 Ozawa M, Goto Y, Sakuta R, Tanno Y, Tsuji S, Nonaka I. The 8,344 mutation in mitochondrial DNA: a comparison between the proportion of mutant DNA and clinico-pathologic findings. Neuromuscul Disord 1995; 05: 483-8.
- 68 Pepe G, Bertini E, Bonaldo P, Bushby K, Giusti B, de Visser M, Guicheney P, Lattanzi G, Merlini L, Muntoni F, Nishino I, Nonaka I, Ben Yaou R, Sabatelli P, Sewry C, Topaloglu H, van der Kooi A. Bethlem myopathy and Ullrich scleroatonic muscular dystrophy: 100th ENMC international workshop. Neuromusc Disord 2002; 12: 984-93.
- 69 Philips MF, Harper PS. Cardiac disease in myotonic dystrophy. Cardiovasc Res 1997; 33: 13-22.
- 70 Politano L, Nigro V, Passamo L, Petretta V, Comi LI, Papparella S, Nigro Ge, Rambaldi PF, Raia P, Pini A, Mora M, Giugliano MAM, Esposito MG, Nogro G. Evaluation of cardiac and respiratory involvement in sarcoglycanopathies. Neuromusc Disord 2001; 11: 178-85.
- 71 Poppe M, Cree L, Bourke J, Eagle M, Anderson LVB, Birchall D, Brockington M, Buddles M, Busby M, Muntoni F, Wills A, Bushby K. The phenotype of limb-girdle muscular dystrophy type 2I. Neurology 2003; 60: 1246-51.
- 72 Rampoldi L, Danek A, Monaco AP. Clinical features and molecular bases of neuroacanthocytosis. J Mol Med 2002; 80: 475-91.
- 73 Regalado JJ, Rodriguez MM, Ferrer PL. Infantile hypertrophic cardiomyopathy of glycogenosis type IX: isolated cardiac phosphorylase kinase deficiency. Pediatr Cardiol 1999; 20: 304-7.
- 74 Saudubray JM, Martin D, de Lonlay P, Touati G, Poggi-Travert F, Bonnet D, Jouvet P, Boutron M, Slama A, Vianey-Saban C, Bonnefont JP, Rabier D, Kamoun P, Brivet M. Recognition and management of fatty acid oxidation defects: a series of 107 patients. J Inherit Metab Dis 1999; 22: 488-502.
- 75 Selcen D, Engel AE. Mutations in myotilin cause myofibrillar myopathy. Neurology 2004; 62: 1363-71.
- 76 Servidei S, Riepe RE, Langston C, Tani LY, Bricker JT, Crisp-Lindgren N, Travers H, Armstrong D, DiMauro S. Severe cardiopathy in branching enzyme deficiency. J Pediatr 1987; 111: 51-6.
- 77 Servidei S. Mitochondrial encephalomyopathies: gene mutation. Neuromusc Disord 2004; 14: 107-16.
- 78 Shuaib A, Paasuke RT, Brownell AKW. Central core disease. Clinical features in 13 patients. Medicine 1987; 66: 389-96.
- 79 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.
- 80 Stöllberger C, Finsterer J, Bittner RE. Angina for 14 years. Lancet 1997; 349: 1292.
- 81 Sugie K, Yamamoto A, Murayama K, Oh SJ, Takahashi M, Mora M, Riggs JE, Colomer J, Iturriaga C, Meloni A, Lamperti C, Saitoh S, Byrne E, DiMauro S, Nonaka I, Hirano M, Nishino I. Clinicopathological features of genetically confirmed Danon disease. Neurology 2002; 58: 1773-8.
- 82 Taylor AJ, Wortham DC, Burge JR, Rogan KM. The heart in polymyositis: a prospective evaluation of 26 patients. Clin Cardiol 1993; 16: 802-8.
- 83 Urtizberea JA, Duboc D, Schwartz K, Bonne G. Dilated cardiomyopathy and related cardiac disorders in muscular dystrophy. In: Emery AEH. (ed.). The muscular dystrophies. Oxford: Oxford University Press; 2001: 202-22.
- 84 van der Kooi AJ, Ledderhof TM, de Voogt WG, Res JCJ, Bouwsma G, Troost D, Busch HFM, Becker AE, de Visser M. A newly recognized autosomal dominant limb girdle muscular dystrophy with cardiac involvement. Ann Neurol 1996; 39: 636-42.
- 85 Voit T, Krogmann O, Lenard HG, Neuen-Jacob E, Wechsler W, Goebel HH, Rahlf G, Lindinger A, Nienaber C. Emery-Dreifuss muscular dystrophy: disease spectrum and differential diagnosis. Neuropediatrics 1988; 19: 62-71.
- 86 von zur Mühlen F, Klass C, Kreuzer H, Mall G, Giese A, Reimers CD. Cardiac involvement in proximal myotonic myopathy. Heart 1998; 79: 619-21.
- 87 Williams MJ, Hammond-Tooke GD, Restieaux NJ. Hypokalaemic periodic paralysis with cardiac arrhythmia and prolonged QT interval. Aust N Z J Med 1995; 25: 549.
- 88 Zatz M, de Paula F, Starling A, Vainzof M. The 10 autosomal rezessive limb-girdle muscular dystrophies. Neuromusc Disord 2003; 13: 532-44.