메뉴 건너뛰기




Volumn 19, Issue 2, 2009, Pages 170-178

The natural course and the impact of therapies of cardiac involvement in the mucopolysaccharidoses

Author keywords

Cardiac anomalies; Echocardiography; Enzyme replacement therapy; Haematopoietic stem cell transplantation; Lysosomal storage disorders

Indexed keywords

ADOLESCENT; AGE DISTRIBUTION; AORTA VALVE DISEASE; ARTICLE; CHILD; CONTROLLED STUDY; DISEASE CLASSIFICATION; DISEASE COURSE; DISEASE SEVERITY; ECHOCARDIOGRAPHY; ENZYME REPLACEMENT; FEMALE; HEART DISEASE; HEART LEFT VENTRICLE HYPERTROPHY; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HUMAN; HUNTER SYNDROME; HURLER SYNDROME; INFANT; MAJOR CLINICAL STUDY; MALE; MAROTEAUX LAMY SYNDROME; MITRAL VALVE DISEASE; MORQUIO SYNDROME; ONSET AGE; SANFILIPPO SYNDROME; SCORING SYSTEM; ADULT; COMPARATIVE STUDY; DOPPLER ECHOCARDIOGRAPHY; ECHOGRAPHY; FOLLOW UP; METHODOLOGY; MIDDLE AGED; MUCOPOLYSACCHARIDOSIS; PRESCHOOL CHILD; RETROSPECTIVE STUDY; TIME; TREATMENT OUTCOME;

EID: 66149099295     PISSN: 10479511     EISSN: 14671107     Source Type: Journal    
DOI: 10.1017/S1047951109003576     Document Type: Article
Times cited : (96)

References (29)
  • 1
    • 0000869162 scopus 로고    scopus 로고
    • The Mucopolysaccharidoses
    • Scriver C, Beaudet A, Sly W, Valle D eds, McGraw-Hill, New York
    • Neufeld E, Muenzer J. The Mucopolysaccharidoses. In: Scriver C, Beaudet A, Sly W, Valle D (eds). The Metabolic and Molecular Bases of Inherited Disease. McGraw-Hill, New York, 2001, pp 3421-3452.
    • (2001) The Metabolic and Molecular Bases of Inherited Disease , pp. 3421-3452
    • Neufeld, E.1    Muenzer, J.2
  • 3
    • 0019373959 scopus 로고
    • Echocardiographic mitral valve deformity in the mucopolysaccharidoses
    • Johnson GL, Vine DL, Cottrill CM, Noonan JA. Echocardiographic mitral valve deformity in the mucopolysaccharidoses. Pediatrics 1981; 67: 401-406.
    • (1981) Pediatrics , vol.67 , pp. 401-406
    • Johnson, G.L.1    Vine, D.L.2    Cottrill, C.M.3    Noonan, J.A.4
  • 5
    • 0025058103 scopus 로고
    • Cardiovascular studies in the mucopolysaccharidoses
    • Nelson J, Shields MD, Mulholland HC. Cardiovascular studies in the mucopolysaccharidoses. J Med Genet 1990; 27: 94-100.
    • (1990) J Med Genet , vol.27 , pp. 94-100
    • Nelson, J.1    Shields, M.D.2    Mulholland, H.C.3
  • 6
    • 0026017848 scopus 로고
    • Arteriopathy and coarctation of the abdominal aorta in children with mucopolysaccharidosis: Imaging findings
    • Taylor DB, Blaser SI, Burrows PE, Stringer DA, Clarke JTR, Thorner P. Arteriopathy and coarctation of the abdominal aorta in children with mucopolysaccharidosis: Imaging findings. Am J Roentgenol 1991; 157: 819-823.
    • (1991) Am J Roentgenol , vol.157 , pp. 819-823
    • Taylor, D.B.1    Blaser, S.I.2    Burrows, P.E.3    Stringer, D.A.4    Clarke, J.T.R.5    Thorner, P.6
  • 9
    • 0031834476 scopus 로고    scopus 로고
    • Cardiovascular changes in children with mucopolysaccharide storage diseases and related disorders - clinical and echocardiographic findings in 64 patients
    • Dangel JH. Cardiovascular changes in children with mucopolysaccharide storage diseases and related disorders - clinical and echocardiographic findings in 64 patients. Eur J Pediatr 1998; 157: 534-538.
    • (1998) Eur J Pediatr , vol.157 , pp. 534-538
    • Dangel, J.H.1
  • 10
  • 11
    • 0036435467 scopus 로고    scopus 로고
    • Cardiac structural involvement in mucopolysaccharidoses
    • Rigante D, Segni G. Cardiac structural involvement in mucopolysaccharidoses. Cardiology 2002; 98: 18-20.
    • (2002) Cardiology , vol.98 , pp. 18-20
    • Rigante, D.1    Segni, G.2
  • 13
    • 0026499956 scopus 로고
    • Acute infantile cardiomyopathy as a presenting feature of mucopolysaccharidosis VI
    • Hayflick S, Rowe S, Kavanaugh-McHugh A, Olson JL, Valle D. Acute infantile cardiomyopathy as a presenting feature of mucopolysaccharidosis VI. J Pediatr 1992; 120: 269-272.
    • (1992) J Pediatr , vol.120 , pp. 269-272
    • Hayflick, S.1    Rowe, S.2    Kavanaugh-McHugh, A.3    Olson, J.L.4    Valle, D.5
  • 14
    • 0025048920 scopus 로고
    • Bone marrow transplantation in mucopolysaccharidosis type I, Hurler-Sheie variety. Metabolic correction and clinical results
    • Ortega AJ, Dominguez LC, Olive OT, et al. Bone marrow transplantation in mucopolysaccharidosis type I, Hurler-Sheie variety. Metabolic correction and clinical results. An Esp Pediatr 1990; 33: 369-375.
    • (1990) An Esp Pediatr , vol.33 , pp. 369-375
    • Ortega, A.J.1    Dominguez, L.C.2    Olive, O.T.3
  • 15
    • 0026511701 scopus 로고
    • Hypetrophic cardiomyopathy in mucopolysaccharidoses: Regression after bone marrow transplantation
    • Viñallonga X, Sanz N, Balaguer A, Miro L, Ortega JJ, Casaldaliga J. Hypetrophic cardiomyopathy in mucopolysaccharidoses: Regression after bone marrow transplantation. Pediatr Cardiol 1992; 13: 107-109.
    • (1992) Pediatr Cardiol , vol.13 , pp. 107-109
    • Viñallonga, X.1    Sanz, N.2    Balaguer, A.3    Miro, L.4    Ortega, J.J.5    Casaldaliga, J.6
  • 16
    • 0029117050 scopus 로고
    • Cardiac involvement in mucopolysaccharidoses: Effects of allogeneic bone marrow transplantation
    • Gatzoulis MA, Vellodi A, Redington AN. Cardiac involvement in mucopolysaccharidoses: Effects of allogeneic bone marrow transplantation. Arch Dis Child 1995; 73: 259-260.
    • (1995) Arch Dis Child , vol.73 , pp. 259-260
    • Gatzoulis, M.A.1    Vellodi, A.2    Redington, A.N.3
  • 17
    • 0032988760 scopus 로고    scopus 로고
    • Bone marrow transplantation for Maroteaux-Lamy syndrome (MPS VI): Long-term follow-up
    • Herskhovitz E, Young E, Rainer J, et al. Bone marrow transplantation for Maroteaux-Lamy syndrome (MPS VI): Long-term follow-up. J Inherit Metab Dis 1999; 22: 50-62.
    • (1999) J Inherit Metab Dis , vol.22 , pp. 50-62
    • Herskhovitz, E.1    Young, E.2    Rainer, J.3
  • 18
    • 0035499168 scopus 로고    scopus 로고
    • Coronary artery patency following long-term successful engraftment 14 years after bone marrow transplantation in the Hurler syndrome
    • Braunlin E, Rose A, Hopwood J, Candel R, Krivit W. Coronary artery patency following long-term successful engraftment 14 years after bone marrow transplantation in the Hurler syndrome. Am J Cardiol 2001; 88: 1075-1077.
    • (2001) Am J Cardiol , vol.88 , pp. 1075-1077
    • Braunlin, E.1    Rose, A.2    Hopwood, J.3    Candel, R.4    Krivit, W.5
  • 19
    • 0141459294 scopus 로고    scopus 로고
    • Usefulness of bone marrow transplantation in the Hurler syndrome
    • Braunlin EA, Stauffer NR, Peters CH, et al. Usefulness of bone marrow transplantation in the Hurler syndrome. Am J Cardiol 2003; 92: 882-886.
    • (2003) Am J Cardiol , vol.92 , pp. 882-886
    • Braunlin, E.A.1    Stauffer, N.R.2    Peters, C.H.3
  • 20
    • 0037295890 scopus 로고    scopus 로고
    • Hematopoietic cell transplantation for inherited metabolic diseases: An overview of outcomes and practice guidelines
    • Peters C, Steward CG. Hematopoietic cell transplantation for inherited metabolic diseases: An overview of outcomes and practice guidelines. Bone Marrow Transplant 2003; 31: 229-239.
    • (2003) Bone Marrow Transplant , vol.31 , pp. 229-239
    • Peters, C.1    Steward, C.G.2
  • 21
    • 2342666229 scopus 로고    scopus 로고
    • Enzyme replacement therapy for mucopolysaccharidosis I: A randomized, double-blinded, placebo-controlled, multinational study of recombinant human alpha-L-iduronidase (laronidase)
    • Wraith JE, Clarke LA, Beck M, et al. Enzyme replacement therapy for mucopolysaccharidosis I: A randomized, double-blinded, placebo-controlled, multinational study of recombinant human alpha-L-iduronidase (laronidase). J Pediatr 2004; 144: 581-588.
    • (2004) J Pediatr , vol.144 , pp. 581-588
    • Wraith, J.E.1    Clarke, L.A.2    Beck, M.3
  • 22
    • 33747209013 scopus 로고    scopus 로고
    • A phase II/III clinical study of enzyme replacement therapy with idursulfase in mucopolysaccharidosis type II (Hunter syndrome)
    • Muenzer J, Wraith JE, Beck M, et al. A phase II/III clinical study of enzyme replacement therapy with idursulfase in mucopolysaccharidosis type II (Hunter syndrome). Genet Med 2006; 8: 465-473.
    • (2006) Genet Med , vol.8 , pp. 465-473
    • Muenzer, J.1    Wraith, J.E.2    Beck, M.3
  • 23
    • 27744493202 scopus 로고    scopus 로고
    • Direct comparison of measures of endurance, mobility, and joint function during enzyme-replacement therapy of mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): Results after 48 weeks in a phase 2 open-label clinical study of recombinant human N-acetylgalactosamine 4-sulfatase
    • Harmatz P, Ketteridge D, Giugliani R, et al. Direct comparison of measures of endurance, mobility, and joint function during enzyme-replacement therapy of mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): Results after 48 weeks in a phase 2 open-label clinical study of recombinant human N-acetylgalactosamine 4-sulfatase. Pediatrics 2005; 115: 681-689.
    • (2005) Pediatrics , vol.115 , pp. 681-689
    • Harmatz, P.1    Ketteridge, D.2    Giugliani, R.3
  • 24
    • 0019165493 scopus 로고
    • Echocardiographic measurements in normal subjects from infancy to old age
    • Henry WL, Gardin JM, Ware JH. Echocardiographic measurements in normal subjects from infancy to old age. Circulation 1980; 62: 1054-1061.
    • (1980) Circulation , vol.62 , pp. 1054-1061
    • Henry, W.L.1    Gardin, J.M.2    Ware, J.H.3
  • 25
    • 0022592983 scopus 로고
    • Semiquantitative grading of severity of mitral regurgitation by real-time two-dimensional Doppler flow imaging technique
    • Miatake K, Izumi S, Okamoto M, et al. Semiquantitative grading of severity of mitral regurgitation by real-time two-dimensional Doppler flow imaging technique. J Am Coll Cardiol 1986; 7: 82-88.
    • (1986) J Am Coll Cardiol , vol.7 , pp. 82-88
    • Miatake, K.1    Izumi, S.2    Okamoto, M.3
  • 26
    • 0024409404 scopus 로고
    • Pulsed and continuous wave Doppler echocardiographic assessment of valvular regurgitation in normal subjects
    • Berger M, Hecht SR, Van Tosh A, Lingam U. Pulsed and continuous wave Doppler echocardiographic assessment of valvular regurgitation in normal subjects. J Am Coll Cardiol 1989; 13: 1540-1545.
    • (1989) J Am Coll Cardiol , vol.13 , pp. 1540-1545
    • Berger, M.1    Hecht, S.R.2    Van Tosh, A.3    Lingam, U.4
  • 27
    • 0017145225 scopus 로고
    • The heart in the Hurler syndrome: Gross, histologic and ultrastructural observations in five necropsy cases
    • Renteria VG, Ferrans VJ, Roberts WC. The heart in the Hurler syndrome: gross, histologic and ultrastructural observations in five necropsy cases. Am J Cardiol 1976; 38: 487-501.
    • (1976) Am J Cardiol , vol.38 , pp. 487-501
    • Renteria, V.G.1    Ferrans, V.J.2    Roberts, W.C.3
  • 28
    • 33745943855 scopus 로고    scopus 로고
    • Cardiac findings after enzyme replacement therapy for mucopolysaccharidosis type I
    • Braunlin EA, Berry JM, Whitley CB. Cardiac findings after enzyme replacement therapy for mucopolysaccharidosis type I. Am J Cardiol 2006; 98: 416-418.
    • (2006) Am J Cardiol , vol.98 , pp. 416-418
    • Braunlin, E.A.1    Berry, J.M.2    Whitley, C.B.3
  • 29
    • 17144399564 scopus 로고    scopus 로고
    • The first 5 years of clinical experience with laronidase enzyme replacement therapy for mucopolysaccharidosis I
    • Wraith JE. The first 5 years of clinical experience with laronidase enzyme replacement therapy for mucopolysaccharidosis I. Expert Opin Pharmacother 2005; 6: 489-506.
    • (2005) Expert Opin Pharmacother , vol.6 , pp. 489-506
    • Wraith, J.E.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.