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Nervenheilkunde 2008; 27(04): 284-291
DOI: 10.1055/s-0038-1627252
Original- und Übersichtsarbeiten - Original and Review Articles
Schattauer GmbH

Schwache Atmung – schwaches Herz

Atemmuskelversagen und Kardiomyopathie bei neuromuskulären ErkrankungenWeak respiration – weak heartRespiratory muscle failure and cardiomyopathy in neuromuscular disorders
F. Stehling
1   Universtitätsklinikum Essen, Zentrum für Kinderheilkunde, Klinik 2, Abteilung Pädiatrische Pneumologie und Schlafmedizin (Ärztl. Leiter: Priv.-Doz. Dr. med. U. Mellies)
,
C. Müntjes
2   Universtitätsklinikum Essen, Zentrum für Kinderheilkunde, Klinik für Pädiatrische Kardiologie (Direktor: Prof. Dr. med. A. A. Schmaltz)
,
U. Neudorf
2   Universtitätsklinikum Essen, Zentrum für Kinderheilkunde, Klinik für Pädiatrische Kardiologie (Direktor: Prof. Dr. med. A. A. Schmaltz)
,
C. Dohna-Schwake
2   Universtitätsklinikum Essen, Zentrum für Kinderheilkunde, Klinik für Pädiatrische Kardiologie (Direktor: Prof. Dr. med. A. A. Schmaltz)
,
U. Mellies
2   Universtitätsklinikum Essen, Zentrum für Kinderheilkunde, Klinik für Pädiatrische Kardiologie (Direktor: Prof. Dr. med. A. A. Schmaltz)
› Author Affiliations
Further Information

Publication History

Eingegangen am: 11 October 2007

angenommen am: 18 October 2007

Publication Date:
19 January 2018 (online)

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Zusammenfassung

Im letzten Jahrzehnt wurden große Fortschritte in der Diagnostik und Therapie neuromuskulärer Erkrankungen gemacht. Insbesondere die Therapie des chronischen Atemmuskelversagens mit der nicht-invasiven Beatmung konnte Morbidität und Mortalität senken und die Lebensqualität verbessern. Rezidivierende Atemweginfekte und Atelektasen komplizieren den Verlauf bei Patienten mit fortgeschrittenen Erkrankungen und sind Folgen eines insuffizienten Hustens. Ein wichtiger, aber noch nicht ausreichend angewandter Bestandteil der Therapie ist die Technik des assistierten Hustens. Mit steigender Lebenserwartung rückt die Herzbeteiligung als lebenslimitierender Faktor weiter in den Vordergrund. In dieser Übersichtsarbeit wird die aktuelle Datenlage zum Atemmuskelversagen und der Herzbeteiligung bei neuromuskulären Erkrankungen diskutiert.

Summary

Over the last decade crucial progress has been made in diagnosis and therapy of neuromuscular disorders. In particular the therapy of the respiratory muscle failure by noninvasive ventilation lead to a reduction of morbidity and mortality as to an increase of quality of life. In advanced disease recurrent respiratory tract infection and atelecasis are severe complications of an insufficient cough. Assisted coughing techniques are an important, however not routinely established part of respiratory management. With increasing life expectancy the cardiac involvement as life limiting factor comes to the focus. In this review the data to respiratory muscle failure and cardiac involvement in neuromuscular disorders are discussed.

Schlüsselwörter

Respiratorische Insuffizienz - Kardiomyopathie - neuromuskuläre Erkrankung

Keywords

Respiratory failure - cardiomyopathy - neuromuscular disorders
 

  • Literatur

  • 1 ATS/ERS Statement on respiratory muscle testing. Am J Respir Crit Care Med 2002; 166 (Suppl. 04) 518-624.
    CrossrefPubMedGoogle Scholar
  • 2 Cardiovascular health supervision for individuals affected by Duchenne or Becker muscular dystrophy. Pediatrics 2005; 116 (Suppl. 06) 1569-1573.
    CrossrefPubMedGoogle Scholar
  • 3 Agretto A, Politano L, Bossone E, Petretta VR, D’Isa S, Passamano L, Comi LI, Erbel R. Pulsed Doppler tissue imaging in dystrophinopathic cardiomyopathy. J Am Soc Echocardiogr 2002; 15 (Suppl. 09) 891-899.
    CrossrefPubMedGoogle Scholar
  • 4 Annane D, Chevrolet JC, Chevret S, Raphael JC. Nocturnal mechanical ventilation for chronic hypoventilation in patients with neuromuscular and chest wall disorders. Cochrane Database Syst Rev 2000; 2: CD001941.
    Google Scholar
  • 5 Ashford Jr MW, Liu W, Lin SJ, Abraszewski P, Caruthers SD, Connolly AM, Yu X, Wickline SA. Occult cardiac contractile dysfunction in dystrophin- deficient children revealed by cardiac magnetic resonance strain imaging. Circulation 2005; 112 (Suppl. 16) 2462-2467.
    CrossrefPubMedGoogle Scholar
  • 6 Bach JR, Bianchi C, Vidigal-Lopes M, Turi S, Felisari G. Lung inflation by glossopharyngeal breathing and ,,air stacking“ in Duchenne muscular dystrophy. Am J Phys Med Rehabil 2007; 86 (Suppl. 04) 295-300.
    CrossrefPubMedGoogle Scholar
  • 7 Bach JR, Rajaraman R, Ballanger F, Tzeng AC, Ishikawa Y, Kulessa R, Bansal T. Neuromuscular ventilatory insufficiency: effect of home mechanical ventilator use v oxygen therapy on pneumonia and hospitalization rates. Am J Phys Med Rehabil 1998; 77 (Suppl. 01) 8-19.
    CrossrefPubMedGoogle Scholar
  • 8 Baydur A, Layne E, Aral H, Krishnareddy N, Topacio R, Frederick G, Bodden W. Long term noninvasive ventilation in the community for patients with musculoskeletal disorders: 46 year experience and review. Thorax 2000; 55 (Suppl. 01) 4-11.
    CrossrefPubMedGoogle Scholar
  • 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; 13 (Suppl. 02) 166-172.
    CrossrefPubMedGoogle Scholar
  • 10 Bye PT, Ellis ER, Issa FG, Donnelly PM, Sullivan CE. Respiratory failure and sleep in neuromuscular disease. Thorax 1990; 45 (Suppl. 04) 241-247.
    CrossrefPubMedGoogle Scholar
  • 11 Cinnella G, Conti G, Lofaso F, Lorino H, Harf A, Lemaire F, Brochard L. Effects of assisted ventilation on the work of breathing: volume-controlled versus pressure-controlled ventilation. Am J Respir Crit Care Med 1996; 153 (Suppl. 03) 1025-1033.
    CrossrefPubMedGoogle Scholar
  • 12 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 (Suppl. 07) 838-841.
    CrossrefPubMedGoogle Scholar
  • 13 Dohna-Schwake C, Ragette R, Teschler H, Voit T, Mellies U. IPPB-assisted coughing in neuromuscular disorders. Pediatr Pulmonol 2006; 41 (Suppl. 06) 551-7.
    CrossrefPubMedGoogle Scholar
  • 14 Dohna-Schwake C, Ragette R, Teschler H, Voit T, Mellies U. Predictors of severe chest infections in pediatric neuromuscular disorders. Neuromuscul Disord 2006; 16 (Suppl. 05) 325-328.
    CrossrefPubMedGoogle Scholar
  • 15 Duboc D, Meune C, Lerebours G, Devaux JY, Vaksmann G, Becane HM. Effect of perindopril on the onset and progression of left ventricular dysfunction in Duchenne muscular dystrophy. J Am Coll Cardiol 2005; 45 (Suppl. 06) 855-857.
    CrossrefPubMedGoogle Scholar
  • 16 Duboc D, Meune C, Pierre B, Wahbi K, Eymard B, Toutain A, Berard C, Vaksmann G, Weber S, Becane HM. Perindopril preventive treatment on mortality in Duchenne muscular dystrophy: 10 years’ follow-up. Am Heart J 2007; 154 (Suppl. 03) 596-602.
    CrossrefPubMedGoogle Scholar
  • 17 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; 12 (Suppl. 10) 926-929.
    CrossrefPubMedGoogle Scholar
  • 18 Eagle M, Bourke J, Bullock R, Gibson M, Mehta J, Giddings D, Straub V, Bushby K. Managing Duchenne muscular dystrophy--the additive effect of spinal surgery and home nocturnal ventilation in improving survival. Neuromuscul Disord 2007; 17 (Suppl. 06) 470-475.
    CrossrefPubMedGoogle Scholar
  • 19 Estenne M, Heilporn A, Delhez L, Yernault JC, De Troyer A. Chest wall stiffness in patients with chronic respiratory muscle weakness. Am Rev Respir Dis 1983; 128 (Suppl. 06) 1002-1007.
    PubMedGoogle Scholar
  • 20 Finder JD, Birnkrant D, Carl J, Farber HJ, Gozal D, Iannaccone ST, Kovesi T, Kravitz RM, Panitch H, Schramm C, Schroth M, Sharma G, Sievers L, Silvestri JM, Sterni L. Respiratory care of the patient with Duchenne muscular dystrophy: ATS consensus statement. Am J Respir Crit Care Med 2004; 170 (Suppl. 04) 456-465.
    CrossrefPubMedGoogle Scholar
  • 21 Finsterer J, Stollberger C. Cardiac involvement in primary myopathies. Cardiology 2000; 94 (Suppl. 01) 1-11.
    CrossrefPubMedGoogle Scholar
  • 22 Finsterer J, Stollberger C. The heart in human dystrophinopathies. Cardiology 2003; 99 (Suppl. 01) 1-19.
    CrossrefPubMedGoogle Scholar
  • 23 Fromageot C, Lofaso F, Annane D, Falaize L, Lejaille M, Clair B, Gajdos P, Raphael JC. Supine fall in lung volumes in the assessment of diaphragmatic weakness in neuromuscular disorders. Arch Phys Med Rehabil 2001; 82 (Suppl. 01) 123-128.
    CrossrefPubMedGoogle Scholar
  • 24 Hukins CA, Hillman DR. Daytime predictors of sleep hypoventilation in Duchenne muscular dystrophy. Am J Respir Crit Care Med 2000; 161 (Suppl. 01) 166-170.
    CrossrefPubMedGoogle Scholar
  • 25 Ioos C, Leclair-Richard D, Mrad S, Barois A, Estournet-Mathiaud B. Respiratory capacity course in patients with infantile spinal muscular atrophy. Chest 2004; 126 (Suppl. 03) 831-837.
    CrossrefPubMedGoogle Scholar
  • 26 Jefferies JL, Eidem BW, Belmont JW, Craigen WJ, Ware SM, Fernbach SD, Neish SR, Smith EO, Towbin JA. Genetic predictors and remodeling of dilated cardiomyopathy in muscular dystrophy. Circulation 2005; 112 (Suppl. 18) 2799-2804.
    CrossrefPubMedGoogle Scholar
  • 27 Jeppesen J, Green A, Steffensen BF, Rahbek J. The Duchenne muscular dystrophy population in Denmark, 1977–2001: prevalence, incidence and survival in relation to the introduction of ventilator use. Neuromuscul Disord 2003; 13 (Suppl. 10) 804-812.
    CrossrefPubMedGoogle Scholar
  • 28 Kajimoto H, Ishigaki K, Okumura K, Tomimatsu H, Nakazawa M, Saito K, Osawa M, Nakanishi T. Beta-blocker therapy for cardiac dysfunction in patients with muscular dystrophy. Circ J 2006; 70 (Suppl. 08) 991-994.
    CrossrefPubMedGoogle Scholar
  • 29 Katz S, Selvadurai H, Keilty K, Mitchell M, MacLusky I. Outcome of non-invasive positive pressure ventilation in paediatric neuromuscular disease. Arch Dis Child 2004; 89 (Suppl. 02) 121-124.
    CrossrefPubMedGoogle Scholar
  • 30 Kennedy JD, Staples AJ, Brook PD, Parsons DW, Sutherland AD, Martin AJ, Stern LM, Foster BK. Effect of spinal surgery on lung function in Duchenne muscular dystrophy. Thorax 1995; 50 (Suppl. 11) 1173-1178.
    CrossrefPubMedGoogle Scholar
  • 31 Khan Y, Heckmatt JZ. Obstructive apnoeas in Duchenne muscular dystrophy. Thorax 1994; 49 (Suppl. 02) 157-161.
    CrossrefPubMedGoogle Scholar
  • 32 Kirchmann C, Kececioglu D, Korinthenberg R, Dittrich S. Echocardiographic and electrocardiographic findings of cardiomyopathy in Duchenne and Becker-Kiener muscular dystrophies. Pediatr Cardiol 2005; 26 (Suppl. 01) 66-72.
    CrossrefPubMedGoogle Scholar
  • 33 Kurz LT, Mubarak SJ, Schultz P, Park SM, Leach J. Correlation of scoliosis and pulmonary function in Duchenne muscular dystrophy. J Pediatr Orthop 1983; 3 (Suppl. 03) 347-353.
    CrossrefPubMedGoogle Scholar
  • 34 Labanowski M, Schmidt-Nowara W, Guilleminault C. Sleep and neuromuscular disease: frequency of sleep-disordered breathing in a neuromuscular disease clinic population. Neurology 1996; 47 (Suppl. 05) 1173-1180.
    CrossrefPubMedGoogle Scholar
  • 35 Manzur AY, Kuntzer T, Pike M, Swan A. Glucocorticoid corticosteroids for Duchenne muscular dystrophy. Cochrane Database Syst Rev 2004; 2: CD003725.
    Google Scholar
  • 36 Markham LW, Spicer RL, Khoury PR, Wong BL, Mathews KD, Cripe LH. Steroid therapy and cardiac function in Duchenne muscular dystrophy. Pediatr Cardiol 2005; 26 (Suppl. 06) 768-771.
    CrossrefPubMedGoogle Scholar
  • 37 Mellies U, Dohna-Schwake C, Ragette R, Teschler H, Voit T. [Nocturnal noninvasive ventilation of children and adolescents with neuromuscular diseases: effect on sleep and symptoms]. Wien Klin Wochenschr 2003; 115 (Suppl. 24) 855-859.
    CrossrefPubMedGoogle Scholar
  • 38 Mellies U, Dohna-Schwake C, Stehling F, Voit T. Sleep disordered breathing in spinal muscular atrophy. Neuromuscul Disord 2004; 14 (Suppl. 12) 797-803.
    CrossrefPubMedGoogle Scholar
  • 39 Mellies U, Ragette R, Dohna Schwake C, Boehm H, Voit T, Teschler H. Long-term noninvasive ventilation in children and adolescents with neuromuscular disorders. Eur Respir J 2003; 22 (Suppl. 04) 631-636.
    CrossrefPubMedGoogle Scholar
  • 40 Mellies U, Ragette R, Schwake C, Boehm H, Voit T, Teschler H. Daytime predictors of sleep disordered breathing in children and adolescents with neuromuscular disorders. Neuromuscul Disord 2003; 13 (Suppl. 02) 123-128.
    CrossrefPubMedGoogle Scholar
  • 41 Mellies U, Stehling F, Dohna-Schwake C, Ragette R, Teschler H, Voit T. Respiratory failure in Pompe disease: treatment with noninvasive ventilation. Neurology 2005; 64 (Suppl. 08) 1465-1467.
    CrossrefPubMedGoogle Scholar
  • 42 Mier-Jedrzejowicz A, Brophy C, Green M. Respiratory muscle weakness during upper respiratory tract infections. Am Rev Respir Dis 1988; 138 (Suppl. 01) 5-7.
    CrossrefPubMedGoogle Scholar
  • 43 Mohyuddin T, Jacobs IB, Bahler RC. B-type natriuretic peptide and cardiac dysfunction in Duchenne muscular dystrophy. Int J Cardiol 2007; 119 (Suppl. 03) 389-391.
    CrossrefPubMedGoogle Scholar
  • 44 Mori K, Manabe T, Nii M, Hayabuchi Y, Kuroda Y, Tatara K. Plasma levels of natriuretic peptide and echocardiographic parameters in patients with Duchenne’s progressive muscular dystrophy. Pediatr Cardiol 2002; 23 (Suppl. 02) 160-166.
    CrossrefPubMedGoogle Scholar
  • 45 Moriuchi T, Kagawa N, Mukoyama M, Hizawa K. Autopsy analyses of the muscular dystrophies. Tokushima J Exp Med 1993; 40 1–2 83-93.
    PubMedGoogle Scholar
  • 46 Muntoni F. Cardiomyopathy in muscular dystrophies. Curr Opin Neurol 2003; 16 (Suppl. 05) 577-583.
    CrossrefPubMedGoogle Scholar
  • 47 Nigro G, Comi LI, Politano L, Bain RJ. The incidence and evolution of cardiomyopathy in Duchenne muscular dystrophy. Int J Cardiol 1990; 26 (Suppl. 03) 271-277.
    CrossrefPubMedGoogle Scholar
  • 48 Paditz E, Zieger S, Bickhardt J, Bockelbrink Grieben U, Hammer J, Kemper A, Knape H, Laier-Graeneveld G, Mellies U, Regneri W, Scholle S, Schönhofer B, Weise M, Wiebel M, Windisch W, Wollinski KH. [Self-Reported Quality of Life in Home Mechanical Ventilation in Childhood, Aldolescence and Young Adulthood: Differences Between Parents and Children]. Somnologie 2000; 4: 13-19.
    CrossrefGoogle Scholar
  • 49 Pehrsson K, Danielsson A, Nachemson A. Pulmonary function in adolescent idiopathic scoliosis: a 25 year follow up after surgery or start of brace treatment. Thorax 2001; 56 (Suppl. 05) 388-393.
    CrossrefPubMedGoogle Scholar
  • 50 Phillips MF, Quinlivan RC, Edwards RH, Calverley PM. Changes in spirometry over time as a prognostic marker in patients with Duchenne muscular dystrophy. Am J Respir Crit Care Med 2001; 164 (Suppl. 12) 2191-2194.
    CrossrefPubMedGoogle Scholar
  • 51 Ragette R, Mellies U, Schwake C, Voit T, Teschler H. Patterns and predictors of sleep disordered breathing in primary myopathies. Thorax 2002; 57 (Suppl. 08) 724-8.
    CrossrefPubMedGoogle Scholar
  • 52 Ramaciotti C, Heistein LC, Coursey M, Lemler MS, Eapen RS, Iannaccone ST, Scott WA. Left ventricular function and response to enalapril in patients with duchenne muscular dystrophy during the second decade of life. Am J Cardiol 2006; 98 (Suppl. 06) 825-827.
    CrossrefPubMedGoogle Scholar
  • 53 Rideau Y, Jankowski LW, Grellet J. Respiratory function in the muscular dystrophies. Muscle Nerve 1981; 4 (Suppl. 02) 155-164.
    CrossrefPubMedGoogle Scholar
  • 54 Sanna T, Dello Russo A, Toniolo D, Vytopil M, Pelargonio G, De Martino G, Ricci E, Silvestri G, Giglio V, Messano L, Zachara E, Bellocci F. Cardiac features of Emery-Dreifuss muscular dystrophy caused by lamin A/C gene mutations. Eur Heart J 2003; 24 (Suppl. 24) 2227-2236.
    CrossrefPubMedGoogle Scholar
  • 55 Sasaki K, Sakata K, Kachi E, Hirata S, Ishihara T, Ishikawa K. Sequential changes in cardiac structure and function in patients with Duchenne type muscular dystrophy: a two-dimensional echocardiographic study. Am Heart J 1998; 135 6 Pt 1 937-44.
    CrossrefPubMedGoogle Scholar
  • 56 Simonds AK, Ward S, Heather S, Bush A, Muntoni F. Outcome of paediatric domiciliary mask ventilation in neuromuscular and skeletal disease. Eur Respir J 2000; 16 (Suppl. 03) 476-481.
    CrossrefPubMedGoogle Scholar
  • 57 Smith GC, Kinali M, Prasad SK, Bonne G, Muntoni F, Pennell DJ, Nihoyannopoulos P. Primary myocardial dysfunction in autosomal dominant EDMD. A tissue doppler and cardiovascular magnetic resonance study. J Cardiovasc Magn Reson 2006; 8 (Suppl. 05) 723-730.
    CrossrefPubMedGoogle Scholar
  • 58 Smith PE, Calverley PM, Edwards RH. Hypoxemia during sleep in Duchenne muscular dystrophy. Am Rev Respir Dis 1988; 137 (Suppl. 04) 884-888.
    CrossrefPubMedGoogle Scholar
  • 59 Stefanutti D, Fitting JW. Sniff nasal inspiratory pressure. Reference values in Caucasian children. Am J Respir Crit Care Med 1999; 159 (Suppl. 01) 107-111.
    CrossrefPubMedGoogle Scholar
  • 60 Vianello A, Arcaro G, Gallan F, Ori C, Bevilacqua M. Pneumothorax associated with long-term noninvasive positive pressure ventilation in Duchenne muscular dystrophy. Neuromuscul Disord 2004; 14 (Suppl. 06) 353-355.
    CrossrefPubMedGoogle Scholar
  • 61 Vianello A, Bevilacqua M, Salvador V, Cardaioli C, Vincenti E. Long-term nasal intermittent positive pressure ventilation in advanced Duchenne’s muscular dystrophy. Chest 1994; 105 (Suppl. 02) 445-448.
    CrossrefPubMedGoogle Scholar
  • 62 Vianello A, Corrado A, Arcaro G, Gallan F, Ori C, Minuzzo M, Bevilacqua M. Mechanical insufflation- exsufflation improves outcomes for neuromuscular disease patients with respiratory tract infections. Am J Phys Med Rehabil 2005; 84 (Suppl. 02) 83-8 discussion 9-91.
    CrossrefPubMedGoogle Scholar
  • 63 Villa MP, Pagani J, Ambrosio R, Ronchetti R, Bernkopf E. Mid-face hypoplasia after long-term nasal ventilation. Am J Respir Crit Care Med 2002; 166 (Suppl. 08) 1142-1143.
    CrossrefPubMedGoogle Scholar
  • 64 Wallgren-Pettersson C, Bushby K, Mellies U, Simonds A. 117th ENMC workshop: ventilatory support in congenital neuromuscular disorders – congenital myopathies, congenital muscular dystrophies, congenital myotonic dystrophy and SMA (II) 4–6 April 2003, Naarden, The Netherlands. Neuromuscul Disord 2004; 14 (Suppl. 01) 56-69.
    CrossrefPubMedGoogle Scholar
  • 65 Ward S, Chatwin M, Heather S, Simonds AK. Randomised controlled trial of non-invasive ventilation (NIV) for nocturnal hypoventilation in neuromuscular and chest wall disease patients with daytime normocapnia. Thorax 2005; 60 (Suppl. 12) 1019-24.
    CrossrefPubMedGoogle Scholar
  • 66 Winck JC, Goncalves MR, Lourenco C, Viana P, Almeida J, Bach JR. Effects of mechanical insufflation- exsufflation on respiratory parameters for patients with chronic airway secretion encumbrance. Chest 2004; 126 (Suppl. 03) 774-780.
    CrossrefPubMedGoogle Scholar
  • 67 Wong CA, Cole AA, Watson L, Webb JK, Johnston ID, Kinnear WJ. Pulmonary function before and after anterior spinal surgery in adult idiopathic scoliosis. Thorax 1996; 51 (Suppl. 05) 534-536.
    CrossrefPubMedGoogle Scholar