Mucopolysaccharidosis type VI: A cardiologist's guide to diagnosis and treatment

International Journal of Cardiology

Volumn 167, Issue 1, 2013, Pages 1-10

  Golda, Adam ^a   Jurecka, Agnieszka ^b,c   Opoka Winiarska, Violetta ^d   Tylki Szymańska, Anna ^b  

^a Department of Cardiology   (Poland)

^b CHILDREN'S MEMORIAL HEALTH INSTITUTE   (Poland)

^c UNIVERSITY OF GDA SK   (Poland)

^d MEDICAL UNIVERSITY OF LUBLIN   (Poland)

Author keywords

Cardiomyopathy; Fibroelastosis; Heart failure; Maroteaux Lamy syndrome; Pulmonary hypertension; Valvular disease

Indexed keywords

ACETYLSALICYLIC ACID; ALDOSTERONE ANTAGONIST; ALPHA ADRENERGIC RECEPTOR BLOCKING AGENT; ANGIOTENSIN RECEPTOR ANTAGONIST; ANTIBIOTIC AGENT; ANTICOAGULANT AGENT; BETA ADRENERGIC RECEPTOR BLOCKING AGENT; CALCIUM ANTAGONIST; CAPTOPRIL; CLOPIDOGREL; DIGITALIS; DIGOXIN; DIPEPTIDYL CARBOXYPEPTIDASE INHIBITOR; DIURETIC AGENT; DOBUTAMINE; DOPAMINE; FIBRIC ACID DERIVATIVE; GALSULFASE; HYDRALAZINE; HYDROXYMETHYLGLUTARYL COENZYME A REDUCTASE INHIBITOR; ISOSORBIDE DINITRATE; IVABRADINE; MOLSIDOMINE; NICORANDIL; NITRATE; RANOLAZINE; RESIN; THIAZIDE DIURETIC AGENT; TRIMETAZIDINE; UNINDEXED DRUG;

ACUTE CORONARY SYNDROME; ACUTE HEART FAILURE; ARTIFICIAL HEART; BACTERIAL ENDOCARDITIS; CARDIOLOGIST; CARDIOMYOPATHY; CARDIOVASCULAR DISEASE; CLINICAL FEATURE; CORONARY ARTERY DISEASE; DIAGNOSTIC PROCEDURE; DIAGNOSTIC TEST; DIFFERENTIAL DIAGNOSIS; EARLY DIAGNOSIS; ECG ABNORMALITY; ECHOCARDIOGRAPHY; ENZYMATIC ASSAY; ENZYME REPLACEMENT; HEART ANEURYSM; HEART FAILURE; HEART MUSCLE CONDUCTION DISTURBANCE; HEART TRANSPLANTATION; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HUMAN; HYPERTENSION; JOINT STIFFNESS; LEFT VENTRICULAR ASSIST DEVICE; LOW DRUG DOSE; MAROTEAUX LAMY SYNDROME; MONITORING; PHENOTYPE; PHYSICAL EXAMINATION; PRIORITY JOURNAL; PULMONARY HYPERTENSION; RESPIRATORY TRACT DISEASE; REVIEW; VALVULAR HEART DISEASE;

CARDIOLOGY; CARDIOVASCULAR DISEASES; HUMANS; MUCOPOLYSACCHARIDOSIS VI; PHYSICIANS; PRACTICE GUIDELINES AS TOPIC; TREATMENT OUTCOME;

EID: 84878547089     PISSN: 01675273     EISSN: 18741754     Source Type: Journal    
DOI: 10.1016/j.ijcard.2012.05.115     Document Type: Review

References (66)

1. T. Litjens, E.G. Baker, K.R. Beckmann, C.P. Morris, J.J. Hopwood, and D.F. Callen Chromosomal localization of ARSB, the gene for human N-acetylgalactosamine-4-sulphatase Hum Genet 82 1989 67 68
2. V. Valayannopoulos, H. Nicely, P. Harmatz, and S. Turbeville Mucopolysaccharidosis VI Orphanet J Rare Dis 5 2010 5
3. F. Baehner, C. Schmiedeskamp, and F. Krummenauer Cumulative incidence rates of the mucopolysaccharidoses in Germany J Inherit Metab Dis 28 2005 1011 1017
4. M.F.G. Petry, K. Nonemacher, and J.C. Sebben Mucopolysaccharidosis type VI: identification of novel mutations on the arylsulphatase B gene in South American patients J Inherit Metab Dis 28 2005 1027 1034
5. M.F. Petry, T. Dieter, M. Burin, R. Giugliani, and S. Leistner Identification of a novel mutation in the ARSB gene that is frequent among Brazilian MPSVI patients Genet Test 7 2003 347 349
6. A. Jurecka, E. Piotrowska, and L. Cimbalistiene Molecular analysis of mucopolysaccharidosis type VI in Poland, Belarus, Lithuania and Estonia Mol Genet Metab 105 2012 237 243
7. C.M. Simonaro, M. D'Angelo, M.E. Haskins, and E.H. Schuchman Joint and bone disease in mucopolysaccharidoses VI and VII: identification of new therapeutic targets and biomarkers using animal models Pediatr Res 57 2005 701 707
8. C.M. Simonaro, M. D'Angelo, and X. He Mechanism of glycosaminoglycan- mediated bone and joint disease: implications for the mucopolysaccharidoses and other connective tissue diseases Am J Pathol 172 2008 112 122
9. C.M. Simonaro, Y. Ge, E. Eliyahu, X. He, K.J. Jepsen, and E.H. Schuchman Involvement of the Toll-like receptor 4 pathway and use of TNF-alpha antagonists for treatment of the mucopolysaccharidoses Proc Natl Acad Sci U S A 107 2010 222 227
10. C.M. Simonaro, M.E. Haskins, and E.H. Schuchman Articular chondrocytes from animals with a dermatan sulfate storage disease undergo a high rate of apoptosis and release nitric oxide and inflammatory cytokines: a possible mechanism underlying degenerative joint disease in the mucopolysaccharidoses Lab Invest 81 2001 1319 1328
11. A. Hinek, and S.E. Wilson Impaired elastogenesis in Hurler disease: dermatan sulfate accumulation linked to deficiency in elastin-binding protein and elastic fiber assembly Am J Pathol 156 2000 925 938
12. E.A. Braunlin, P.R. Harmatz, and M. Scarpa Cardiac disease in patients with mucopolysaccharidosis: presentation, diagnosis and management J Inherit Metab Dis 34 2011 1183 1197
13. A. Golda, A. Jurecka, and A. Tylki-Szymanska Cardiovascular manifestations of mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome) Int J Cardiol 158 1 2012 Jun 28 6 11
14. E.F. Neufeld, and J. Muenzer The mucopolysaccharidoses C.R. Scriver, A.L. Beaudet, W.S. Sly, The metabolic and molecular basis of inherited disease 2001 McGraw-Hill New York 3421 3452
15. E. Kachur, and R. Del Maestro Mucopolysaccharidoses and spinal cord compression: case report and review of the literature with implications of bone marrow transplantation Neurosurgery 47 2000 223 228 (discussion 8-9)
16. D.D. Horovitz, S. Magalhães Tde, and A. Pena e Costa Spinal cord compression in young children with type VI mucopolysaccharidosis Mol Genet Metab 104 2011 295 300
17. R. Giugliani, P. Harmatz, and J.E. Wraith Management guidelines for mucopolysaccharidosis VI Pediatrics 120 2007 405 418
18. F.C. Brosius III, and W.C. Roberts Coronary artery disease in the Hurler syndrome. Qualitative and quantitative analysis of the extent of coronary narrowing at necropsy in six children Am J Cardiol 47 1981 649 653
19. A. Hirth, A. Berg, and G. Greve Successful treatment of severe heart failure in an infant with Hurler syndrome J Inherit Metab Dis 30 2007 820
20. O.I. Soliman, R.G. Timmermans, and A. Nemes Cardiac abnormalities in adults with the attenuated form of mucopolysaccharidosis type I J Inherit Metab Dis 30 2007 750 757
21. A. Jurecka, A. Golda, V. Opoka-Winiarska, E. Piotrowska, and A. Tylki-Szymanska Mucopolysaccharidosis Type VI (Maroteaux-Lamy syndrome) with a predominantly cardiac phenotype Mol Genet Metab 104 2011 695 699
22. T.H. Marwick, B. Bastian, C.F. Hughes, and B.P. Bailey Mitral stenosis in the Maroteaux-Lamy syndrome: a treatable cause of dyspnoea Postgrad Med J 68 1992 287 288
23. M.R. Chen, S.P. Lin, H.K. Hwang, and C.H. Yu Cardiovascular changes in mucopolysaccharidoses in Taiwan Acta Cardiol 60 2005 51 53
24. L.V. Fong, S. Menahem, J.E. Wraith, and C.W. Chow Endocardial fibroelastosis in mucopolysaccharidosis type VI Clin Cardiol 10 1987 362 364
25. J. Nelson, M.D. Shields, and H.C. Mulholland Cardiovascular studies in the mucopolysaccharidoses J Med Genet 27 1990 94 100
26. E. Dilber, A. Celiker, T. Karagoz, and H.S. Kalkanoglu Permanent transfemoral pacemaker implantation in a child with Maroteaux Lamy syndrome Pacing Clin Electrophysiol 25 2002 1784 1785
27. R.M. Schieken, R.E. Kerber, V.V. Ionasescu, and H. Zellweger Cardiac manifestations of the mucopolysaccharidoses Circulation 52 1975 700 705
28. L. Dainese, G. Polvani, and F. Barili Fine characterization of mitral valve glycosaminoglycans and their modification with degenerative disease Clin Chem Lab Med 45 2007 361 366
29. K.P. McCarthy, L. Ring, and B.S. Rana Anatomy of the mitral valve: understanding the mitral valve complex in mitral regurgitation Eur J Echocardiogr 11 2010 i3 i9
30. Y. Chandrashekhar, S. Westaby, and J. Narula Mitral stenosis Lancet 374 2009 1271 1283
31. M. Enriquez-Sarano, C.W. Akins, and A. Vahanian Mitral regurgitation Lancet 373 2009 1382 1394
32. T.H. Marwick, P. Lancellotti, and L. Pierard Ischaemic mitral regurgitation: mechanisms and diagnosis Heart 95 2009 1711 1718
33. J.L. Lee, S.M. Naguwa, G.S. Cheema, and M.E. Gershwin Revisiting Libman-Sacks endocarditis: a historical review and update Clin Rev Allergy Immunol 36 2009 126 130
34. S.J. Swiedler, M. Beck, and M. Bajbouj Threshold effect of urinary glycosaminoglycans and the walk test as indicators of disease progression in a survey of subjects with Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome) Am J Med Genet A 134A 2005 144 150
35. V. Fesslova, P. Corti, and G. Sersale The natural course and the impact of therapies of cardiac involvement in the mucopolysaccharidoses Cardiol Young 19 2009 170 178
36. G.Y. Oudit, J. Butany, W.G. Williams, S.C. Siu, J.T. Clarke, and R.M. Iwanochko Left ventricular aneurysm in a patient with mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome): clinical and pathological correlation Cardiovasc Pathol 16 2007 237 240
37. A. Azevedo, I.V. Schwartz, and L. Kalakun Clinical and biochemical study of 28 patients with mucopolysaccharidosis type VI Clin Genet 66 2004 208 213
38. G.N. Leal, A.C. de Paula, C. Leone, and C.A. Kim Echocardiographic study of paediatric patients with mucopolysaccharidosis Cardiol Young 20 2010 254 261
39. R.M. John, D. Hunter, and R.H. Swanton Echocardiographic abnormalities in type IV mucopolysaccharidosis Arch Dis Child 65 1990 746 749
40. J. Muenzer, R.H. Beekman, L.M. Profera, and E.L. Bove Severe mitral insufficiency in mucopolysaccharidosis type III-B (Sanfilippo syndrome) Pediatr Cardiol 14 1993 130 132
41. S. Nampoothiri, M. Kappanayil, K.R. Hiran, and V. Sunitha Sly disease: mucopolysaccharidosis type VII Indian Pediatr 45 2008 859 861
42. M.M. Brands, I.M. Frohn-Mulder, and M.L. Hagemans Mucopolysaccharidosis: cardiologic features and effects of enzyme-replacement therapy in 24 children with MPS I, II and VI J Inherit Metab Dis 36 2 2013 Mar 227 234
43. R.V. Rocha, R.J. Alvarez, and C.A. Bermudez Valve surgery in a mucopolysaccharidosis type I patient: early prosthetic valve endocarditis Eur J Cardiothorac Surg 41 2012 448 449
44. C.S. Wilson, H.T. Mankin, and J.R. Pluth Aortic stenosis and mucopolysaccharidosis Ann Intern Med 92 1980 496 498
45. C.T. Tan, H.V. Schaff, F.A. Miller Jr., W.D. Edwards, and P.S. Karnes Valvular heart disease in four patients with Maroteaux-Lamy syndrome Circulation 85 1992 188 195
46. G. Habib, B. Hoen, and P. Tornos Guidelines on the prevention, diagnosis, and treatment of infective endocarditis (new version 2009): the Task Force on the Prevention, Diagnosis, and Treatment of Infective Endocarditis of the European Society of Cardiology (ESC). Endorsed by the European Society of Clinical Microbiology and Infectious Diseases (ESCMID) and the International Society of Chemotherapy (ISC) for Infection and Cancer Eur Heart J 30 2009 2369 2413
47. S. Hayflick, S. Rowe, A. Kavanaugh-McHugh, J.L. Olson, and D. Valle Acute infantile cardiomyopathy as a presenting feature of mucopolysaccharidosis VI J Pediatr 120 1992 269 272
48. G. Miller, and A. Partridge Mucopolysaccharidosis type VI presenting in infancy with endocardial fibroelastosis and heart failure Pediatr Cardiol 4 1983 61 62
49. C. Keller, J. Briner, J. Schneider, M. Spycher, S. Rampini, and R. Gitzelmann Mucopolysaccharidosis 6-A (Maroteaux-Lamy disease): comparison of clinical and pathologico-anatomic findings in a 27-year-old patient Helv Paediatr Acta 42 1987 317 333
50. K. Dickstein, A. Cohen-Solal, and G. Filippatos ESC guidelines for the diagnosis and treatment of acute and chronic heart failure 2008: the Task Force for the Diagnosis and Treatment of Acute and Chronic Heart Failure 2008 of the European Society of Cardiology. Developed in collaboration with the Heart Failure Association of the ESC (HFA) and endorsed by the European Society of Intensive Care Medicine (ESICM) Eur J Heart Fail 10 2008 933 989
51. M.C. Malicdan, S. Noguchi, I. Nonaka, P. Saftig, and I. Nishino Lysosomal myopathies: an excessive build-up in autophagosomes is too much to handle Neuromuscul Disord 18 2008 521 529
52. V.V. McLaughlin, S.L. Archer, and D.B. Badesch ACCF/AHA 2009 expert consensus document on pulmonary hypertension: a report of the American College of Cardiology Foundation Task Force on Expert Consensus Documents and the American Heart Association: developed in collaboration with the American College of Chest Physicians, American Thoracic Society, Inc., and the Pulmonary Hypertension Association Circulation 119 2009 2250 2294
53. H. Grinberg, C.R. Quaio, and M.S. Avila The first cardiac transplant experience in a patient with mucopolysaccharidosis Cardiovasc Pathol 21 4 2012 Jul-Aug 358 360
54. S.E. Leighton, B. Papsin, A. Vellodi, R. Dinwiddie, and R. Lane Disordered breathing during sleep in patients with mucopolysaccharidoses Int J Pediatr Otorhinolaryngol 58 2001 127 138
55. T.D. Bradley, and J.S. Floras Obstructive sleep apnoea and its cardiovascular consequences Lancet 373 2009 82 93
56. G. Mancia, G. De Backer, and A. Dominiczak 2007 ESH-ESC practice guidelines for the management of arterial hypertension: ESH-ESC Task Force on the Management of Arterial Hypertension J Hypertens 25 2007 1751 1762
57. R.Y. Wang, K.K. Covault, and E.M. Halcrow Carotid intima-media thickness is increased in patients with mucopolysaccharidoses Mol Genet Metab 104 2011 592 596
58. K. Fox, M.A. Garcia, and D. Ardissino Guidelines on the management of stable angina pectoris: executive summary: The Task Force on the Management of Stable Angina Pectoris of the European Society of Cardiology Eur Heart J 27 2006 1341 1381
59. C.W. Hamm, J.P. Bassand, and S. Agewall ESC guidelines for the management of acute coronary syndromes in patients presenting without persistent ST-segment elevation: The Task Force for the Management of Acute Coronary Syndromes (ACS) in patients presenting without persistent ST-segment elevation of the European Society of Cardiology (ESC) Eur Heart J 32 2011 2999 3054
60. F. Van de Werf, J. Bax, and A. Betriu Management of acute myocardial infarction in patients presenting with persistent ST-segment elevation: the Task Force on the Management of ST-Segment Elevation Acute Myocardial Infarction of the European Society of Cardiology Eur Heart J 29 2008 2909 2945
61. R.W. Walker, D.L. Allen, and M.R. Rothera A fibreoptic intubation technique for children with mucopolysaccharidoses using the laryngeal mask airway Paediatr Anaesth 7 1997 421 426
62. H. Boudoulas Etiology of valvular heart disease Expert Rev Cardiovasc Ther 1 2003 523 532
63. M.R. Essop, and V.T. Nkomo Rheumatic and nonrheumatic valvular heart disease: epidemiology, management, and prevention in Africa Circulation 112 2005 3584 3591
64. E. Braunlin, J. Berry, and C. Whitley Cardiac findings after enzyme replacement therapy for mucopolysaccharidosis type I Am J Cardiol 98 2006 416 418
65. J.E. Wraith, M. Beck, and R. Lane Enzyme replacement therapy in patients who have mucopolysaccharidosis I and are younger than 5 years: results of a multinational study of recombinant human alpha-L-iduronidase (laronidase) Pediatrics 120 2007 e37 e46
66. T. Okuyama, A. Tanaka, and Y. Suzuki Japan Elaprase Treatment (JET) study: idursulfase enzyme replacement therapy in adult patients with attenuated Hunter syndrome (Mucopolysaccharidosis II, MPS II) Mol Genet Metab 99 2010 18 25