Hostname: page-component-cd9895bd7-jkksz Total loading time: 0 Render date: 2024-12-23T00:20:11.288Z Has data issue: false hasContentIssue false
  • English
  • Français

Echocardiographic study of paediatric patients with mucopolysaccharidosis

Published online by Cambridge University Press:  26 April 2010

Gabriela N. Leal ,
Ana C. de Paula ,
Cláudio Leone  and
Chong A. Kim
Gabriela N. Leal*
Affiliation:
Serviço de Ecocardiografia do Instituto da Criança, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, SP, Brasil
Ana C. de Paula
Affiliation:
Unidade de Genética do Instituto da Criança, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, SP, Brasil
Cláudio Leone
Affiliation:
Departamento de Saúde Materno-Infantil, Faculdade de Saúde Pública da Universidade de São Paulo, São Paulo, SP, Brasil
Chong A. Kim
Affiliation:
Unidade de Genética do Instituto da Criança, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, SP, Brasil
*
Correspondence to: Dr G. N. Leal, Rua Pageú 100, ap 142, Chácara Inglesa, Zip code: 04139 000, São Paulo, SP, Brasil. Tel and Fax: +55 11 2578 76 73; E-mail: [email protected]
Get access Rights & Permissions [Opens in a new window]

Abstract

Principle

Mucopolysaccharidosis is an inborn error of metabolism causing glucosaminoglycans tissue storage. Cardiovascular involvement is variable but contributes significantly towards the morbidity and mortality of the patients.

Objective

To characterise the echocardiographic abnormalities in children and adolescents with different types of mucopolysaccharidosis.

Method

Echocardiograms and medical records of 28 patients aged 2–14 years, seen from 2003 to 2005, were revised. At that time, the enzymatic replacement therapy was still not available in our institution.

Results

Echocardiographic alterations were detected in 26 patients (93%), whereas 16 (57%) had abnormal auscultation, and only 6 (21%) presented with cardiovascular complaint. Mitral valve thickening with dysfunction (regurgitation, stenosis, or double lesion) was diagnosed in 60.8%, left ventricular hypertrophy in 43% and aortic valve thickening with regurgitation in 35.8% of the patients. There was no systolic dysfunction and mild left diastolic dysfunction was shown in 21.5% of the patients. Pulmonary hypertension was present in 36% of the patients, causing the only two deaths recorded. There was a strong association between the accumulation of dermatan sulphate and the presence of mitral valve dysfunction (p = 0.0003), aortic valve dysfunction (p = 0.006), and pulmonary hypertension (p = 0.006). Among individuals with two or more examinations, 82% had a worsening evolution.

Conclusions

Echocardiographic alterations in children with Mucopolysaccharidosis are frequent and have a progressive character. Left valve lesions, ventricular hypertrophy, and pulmonary hypertension were the most common findings and there was an association between the accumulation of dermatan sulphate and cardiovascular involvement. Unlike in adults, pulmonary hypertension was the main cause of death, not left ventricle systolic dysfunction.

Keywords

Aortic valvelysosomal storage diseasesleft ventricular hypertrophymitral valvepulmonary hypertension
Type
Original Articles
Information
Cardiology in the Young , Volume 20 , Issue 3 , June 2010 , pp. 254 - 261
Copyright
Copyright © Cambridge University Press 2010

Access options

Get access to the full version of this content by using one of the access options below. (Log in options will check for institutional or personal access. Content may require purchase if you do not have access.)

References

1. Aumailley, M, Gayraud, B. Structure and biological activity of the extracellular matrix. Mol Med 1998; 76: 253–265.CrossRefGoogle ScholarPubMed
2. Guertl, B, Noehammer, C, Hoefler, G. Metabolic cardiomyopathies. Int J Exp Pathol 2001; 81: 349–372.CrossRefGoogle Scholar
3. Muenzer, J. The mucopolysaccharidoses: a heterogeneous group of disorders with variable pediatric presentations. J Pediatr 2004; 144: 27–34.CrossRefGoogle ScholarPubMed
4. Robins, S, Kumar, V, Cotran, R. Genetical disorders. In: Robins S, Kumar V, Cotran R (eds). Pathologic Basis of Disease, 4th edn. W.B. Saunders Company, Philadelphia, 1989, pp 149–151.Google Scholar
5. Kettles, DI, Sheppard, , Liebmann, RD, Davidson, C. Left ventricular aneurysm, aortic valve disease and coronary narrowing in a patient with Hunter’s syndrome. Cardiovasc Pathol 2002; 11: 94–96.CrossRefGoogle Scholar
6. Hishitani, T, Wakita, S, Isoda, T, et al. Sudden death in Hunter Syndrome caused by complete atrioventricular block. J Pediatr 2000; 136: 268–269.CrossRefGoogle ScholarPubMed
7. 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.CrossRefGoogle ScholarPubMed
8. Rigante, D, Segni, G. Cardiac structural involvement in mucopolysaccharidoses. Cardiology 2002; 98: 18–20.CrossRefGoogle ScholarPubMed
9. Braulin, EA, Berry, JM, Whitley, CB. Cardiac findings after enzyme replacement therapy for Mucopolysaccharidosis Type I. Am J Cardiol 2006; 98: 416–418.CrossRefGoogle Scholar
10. Dubois, D, Dubois, EF. A formula to estimate the aproximate surface area if height and weight are known. Arch Intern Med 1916; 17: 863–871.CrossRefGoogle Scholar
11. Kampmann, C, Wiethoff, CM, Wenzel, A, et al. Normal values of M mode echocardiographic measurements of more than 2000 healthy infants and children in central Europe. Heart 2000; 83: 667–672.CrossRefGoogle ScholarPubMed
12. O’Leary, PW, Durongpisitkul, K, Cordes, TM, et al. Diastolic ventricular function in children: a Doppler echocardiographic study establishing normal values and predictors of ventricular end diastolic pressure. Mayo Clin Proc 1998; 73: 616–628.Google ScholarPubMed
13. Carvalho, ACC, Almeida, DR, Lopes, AA. Diagnóstico, Avaliação e Terapêutica da Hipertensão Pulmonar. In: Lopes AA (ed.). Diretrizes da Sociedade Brasileira de Cardiologia, 2005.Google Scholar
14. Zoghbi, WA, Sarano, ME, Foster, E, et al. Recommendation for evaluation of the severity of native valvular regurgitation with two-dimensional and Doppler echocardiography. J Am Soc Echocardiogr 2003; 16: 777–802.CrossRefGoogle ScholarPubMed
15. Riggs, TW, Lapin, GD, Paul, MH, Muster, AJ, Berry, TE. Measurement of mitral valve orifice area in infants and children by two-dimensional echocardiography. J Am Coll Cardiol 1983; 1: 873–878.CrossRefGoogle ScholarPubMed
16. Gross, DM, Julian, CM, Caprioli, C, Dominguez, B, Howell, R. Echocadiographic abnormalities in the mucopolysaccharide storage diseases. Am J Cardiol 1988; 61: 170–176.CrossRefGoogle Scholar
17. Mohan, UR, Hay, AA, Cleary, MA, Wraith, JE, Patel, RG. Cardiovascular changes in children with mucopolysaccharide disorders. Acta Paediatr 2002; 91: 799–804.CrossRefGoogle ScholarPubMed
18. Nelson, J, Shields, MD, Mulholand, HC. Cardiovascular studies in the mucopolysaccharidoses. J Med Genet 1990; 27: 94–100.CrossRefGoogle ScholarPubMed
19. Soliman, O, Timmermans, RGM, Nemes, A, et al. Cardiac abnormalities in adults with attenuated form of mucopolysaccharidosis type I. J Inherit Metab Dis 2007; 30: 750–757.CrossRefGoogle ScholarPubMed
20. Neufeld, EF, Muenzer, J. The mucopolysaccharidoses. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds). The metabolic and molecular bases of inherited diseases, 7th edn. McGray-Hill, New York, 1995, pp 2465–2494.Google Scholar
21. Chan, D, Li, AM, Yam, MC, Li, CK, Fok, TF. Hurler’s syndrome with cor pulmonale secondary to obstructive sleep apnoea treated by continuous positive airway pressure. J Paediatr Child Health 2003; 39: 558–559.CrossRefGoogle ScholarPubMed
22. Walker, RWM, Darowski, M, Morris, P, Wraith, JE. Anaesthesia and mucopolisaccharidoses. Anaesthesia 1994; 49: 1078–1084.CrossRefGoogle Scholar
23. Butman, SM, Karl, L, Copeland, J. Combined aortic and mitral valve replacement in adult with Scheie’s disease. Chest 1989; 96: 209–210.CrossRefGoogle ScholarPubMed
24. Kraiem, S, Lahidheb, D, Chehaibi, N, et al. Rétrécissement mitral secondaire à un syndrome de Hurler. Arch Mal Coeur 2001; 94: 153–156.Google ScholarPubMed
25. Shapiro, J, Strome, M, Crocker, A. Airway obstruction and sleep apnea in Hurler and Hunter syndromes. Ann Otol Rhinol Laryngol 1985; 94: 458–461.CrossRefGoogle ScholarPubMed
26. Pierpont, MEM, Moller, JH. Cardiac manifestations of systemic disease. In: Emmanouilides GC, Riemenschneider TA, Allen HD, Gutgesell HP (eds). Moss and Adams’ Heart Disease in Infants, Children, and Adolescents, 4th edn. Willians and Wilkins, Baltimore, 1989, pp 778–783.Google Scholar
27. John, RM, Hunter, D, Swanton, RH. Echocardiographic abnormalities in type IV mucopolysaccharidoses. Arch Dis Child 1990; 65: 746–749.CrossRefGoogle Scholar
28. Schuldt, AJT, Hampton, TJ, Chu, V, et al. Electrocardiographic and other cardiac anomalies in β-glucuronidase-null mice corrected by nonablative neonatal marrow transplantation. Proc Nat Acad Sci USA 2004; 101: 603–608.CrossRefGoogle ScholarPubMed
29. Honjo, O, Ishino, K, Kawada, M, Ohtsuki, S, Sano, S. Coarctation of the thoraco-abdominal aorta associated with Mucopolisaccharidose VII in a child. Ann Thorac Surg 2005; 80: 729–731.CrossRefGoogle ScholarPubMed