Top

Published in:

Open Access 01-10-2007 | Original Article

Cardiac abnormalities in adults with the attenuated form of mucopolysaccharidosis type I

Authors: O. I. I. Soliman, R. G. M. Timmermans, A. Nemes, W. B. Vletter, J. H. P. Wilson, F. J. ten Cate, M. L. Geleijnse

Published in: Journal of Inherited Metabolic Disease | Issue 5/2007

Summary

Background:

Cardiac involvement in mucopolysaccharidosis type I (MPS I) has been studied primarily in its most severe forms. Cardiac involvement, particularly left ventricular (LV) systolic and diastolic function, in the attenuated form of MPS I is less well known.

Methods:

Cardiac function was prospectively investigated in 9 adult patients with the attenuated form of MPS I. All patients underwent 12-lead electrocardiography, 24 h Holter monitoring and two-dimensional echocardiography including tissue Doppler imaging (TDI). Eighteen age- and sex-matched healthy volunteers served as a control group.

Results:

Aortic, mitral and tricuspid valve thickening was seen in, respectively, 5 (56%), 4 (44%) and 2 (22%) patients. Moderate mitral valve stenosis was seen in 1 patient and moderate aortic stenosis in 2 patients. All patients had mild-to-moderate aortic and mitral valve regurgitation and 6 patients (67%) had mild-to-moderate tricuspid valve regurgitation. Despite normal LV dimensions, ejection fraction and mass index, MPS patients had lower mean systolic mitral annular velocities (6.1±0.6 vs 9.1±1.4 cm/s, p<0.01) compared to normal control subjects. Similarly, mean early diastolic mitral annular velocities were lower in MPS patients (7.8;±0.9 vs 13.3±3.3 cm/s, p<0.01).

Conclusion:

MPS I patients with the attenuated phenotype have not only valvular abnormalities but also LV diastolic and systolic abnormalities.

Beesley CE, Meaney CA, Greenland G, et al (2001) Mutational analysis of 85 mucopolysaccharidosis type I families: frequency of known mutations, identification of 17 novel mutations and in vitro expression of missense mutations. Hum Genet 109(5): 503–511.CrossRefPubMed

Braunlin E, Mackey-Bojack S, Panoskaltsis-Mortari A, et al (2006a) Cardiac functional and histopathologic findings in humans and mice with mucopolysaccharidosis type I: implications for assessment of therapeutic interventions in Hurler syndrome. Pediatr Res 59(1): 27–32.CrossRefPubMed

Braunlin EA, Berry JM, Whitley CB (2006b) Cardiac findings after enzyme replacement therapy for mucopolysaccharidosis type I. Am J Cardiol 98(3): 416–418.CrossRefPubMed

Bruch C, Stypmann J, Gradaus R, Breithardt G, Wichter T (2004) Usefulness of tissue Doppler imaging for estimation of filling pressures in patients with primary or secondary pure mitral regurgitation. Am J Cardiol 93(3): 324–328.CrossRefPubMed

Butman SM, Karl L, Copeland JG (1989) Combined aortic and mitral valve replacement in an adult with Scheie’s disease. Chest 96(1): 209–210.CrossRefPubMed

Cheitlin MD, Alpert JS, Armstrong WF, et al (1997) ACC/AHA guidelines for the clinical application of echocardiography: executive summary. A report of the American College of Cardiology/American Heart Association Task Force on practice guidelines (Committee on Clinical Application of Echocardiography) Developed in collaboration with the American Society of Echocardiography. J Am Coll Cardiol 29(4): 862–879.PubMedCrossRef

Crawford MH, Roldan CA (2001) Quantitative assessment of valve thickness in normal subjects by transesophageal echocardiography. Am J Cardiol 87(12): 1419–1423.CrossRefPubMed

Dangel JH (1998) Cardiovascular changes in children with mucopolysaccharide storage diseases and related disorders—clinical and echocardiographic findings in 64 patients. Eur J Pediatr 157(7): 534–538.CrossRefPubMed

Fischer TA, Lehr HA, Nixdorff U, Meyer J (1999) Combined aortic and mitral stenosis in mucopolysaccharidosis type I-S (Ullrich–Scheie syndrome). Heart 81(1): 97–99.PubMed

Fujiwara S, Miyamoto Y, Umemoto M, et al (1983) [Echocardiographic findings in 3 cases of mucopolysaccharidosis]. J Cardiogr 13(1): 171–180. [In Japanese].PubMed

Jordan MC, Zheng Y, Ryazantsev S, Rozengurt N, Roos KP, Neufeld EF (2005) Cardiac manifestations in the mouse model of mucopolysaccharidosis I. Mol Genet Metab 86(1–2): 233–243.CrossRefPubMed

Kakkis ED, Muenzer J, Tiller GE, et al (2001) Enzyme-replacement therapy in mucopolysaccharidosis I. N Engl J Med 344(3): 182–188.CrossRefPubMed

Khouri SJ, Maly GT, Suh DD, Walsh TE (2004) A practical approach to the echocardiographic evaluation of diastolic function. J Am Soc Echocardiogr 17(3): 290–297.CrossRefPubMed

Lang RM, Bierig M, Devereux RB, et al (2006) Recommendations for chamber quantification. Eur J Echocardiogr 7(2): 79–108.CrossRefPubMed

Marwick TH (2004) Tissue Doppler imaging for evaluation of myocardial function in patients with diabetes mellitus. Curr Opin Cardiol 19(5): 442–446.CrossRefPubMed

Masuda H, Morishita Y, Taira A, Kuriyama M (1993) Aortic stenosis associated with Scheie’s syndrome. Report of successful valve replacement. Chest 103(3): 968–970.CrossRefPubMed

Minakata K, Konishi Y, Matsumoto M, Miwa S (1998) Surgical treatment for Scheie’s syndrome (mucopolysaccharidosis type I-S): report of two cases. Jpn Circ J 62(9): 700–703.CrossRefPubMed

Mohan UR, Hay AA, Cleary MA, Wraith JE, Patel RG (2002) Cardiovascular changes in children with mucopolysaccharide disorders. Acta Paediatr 91(7): 799–804.CrossRefPubMed

Nagueh SF, Middleton KJ, Kopelen HA, Zoghbi WA, Quinones MA (1997) Doppler tissue imaging: a noninvasive technique for evaluation of left ventricular relaxation and estimation of filling pressures. J Am Coll Cardiol 30(6): 1527–1533.CrossRefPubMed

Nelson J, Shields MD, Mulholland HC (1990) Cardiovascular studies in the mucopolysaccharidoses. J Med Genet 27(2): 94–100.CrossRefPubMed

Neufeld E, Muenzer J (2001) The mucopolysaccharidoses. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds; Childs B, Kinzler KW, Vogelstein B, assoc. eds. The Metabolic and Molecular Bases of Inherited Disease, 8th edn. New York: McGraw-Hill, 3421–3452.

Nikitin NP, Witte KK, Thackray SD, de Silva R, Clark AL, Cleland JG (2003) Longitudinal ventricular function: normal values of atrioventricular annular and myocardial velocities measured with quantitative two-dimensional color Doppler tissue imaging. J Am Soc Echocardiogr 16(9): 906–921.CrossRefPubMed

Ommen SR, Nishimura RA, Appleton CP, et al (2000) Clinical utility of Doppler echocardiography and tissue Doppler imaging in the estimation of left ventricular filling pressures: a comparative simultaneous Doppler-catheterization study. Circulation 102(15): 1788–1794.PubMed

Otto CM (2004) Textbook of Clinical Echocardiography. Philadelphia: Elsevier Saunders.

Poulsen SH, Andersen NH, Ivarsen PI, Mogensen CE, Egeblad H (2003) Doppler tissue imaging reveals systolic dysfunction in patients with hypertension and apparent isolated diastolic dysfunction. J Am Soc Echocardiogr 16(7): 724–731.CrossRefPubMed

Rigante D, Segni G (2002) Cardiac structural involvement in mucopolysaccharidoses. Cardiology 98(1–2): 18–20.CrossRefPubMed

Sahasakul Y, Edwards WD, Naessens JM, Tajik AJ (1988) Age-related changes in aortic and mitral valve thickness: implications for two-dimensional echocardiography based on an autopsy study of 200 normal human hearts. Am J Cardiol 62(7): 424–430.CrossRefPubMed

Sifuentes M, Doroshow R, Hoft R, et al (2007) A follow-up study of MPS I patients treated with laronidase enzyme replacement therapy for 6 years. Mol Genet Metab 90(2): 171–180.CrossRefPubMed

Tada A, Tanaka A, Yasuda M, et al (1983) [Cardiac manifestation of the mucopolysaccharidoses: periodical echocardiographic evaluation in six cases]. J Cardiogr 13(2): 407–423. [In Japanese].PubMed

Vijay S, Wraith JE (2005) Clinical presentation and follow-up of patients with the attenuated phenotype of mucopolysaccharidosis type I. Acta Paediatr 94(7): 872–877.CrossRefPubMed

Vydt TC, de Coo RF, Soliman OI, et al (2007) Cardiac involvement in adults with m.3243A>G MELAS gene mutation. Am J Cardiol 99(2): 264–269.CrossRefPubMed

Weissman NJ, Pini R, Roman MJ, Kramer-Fox R, Andersen HS, Devereux RB (1994) In vivo mitral valve morphology and motion in mitral valve prolapse. Am J Cardiol 73(15): 1080–1088.CrossRefPubMed

Wippermann CF, Beck M, Schranz D, Huth R, Michel-Behnke I, Jungst BK (1995) Mitral and aortic regurgitation in 84 patients with mucopolysaccharidoses. Eur J Pediatr 154(2): 98–101.CrossRefPubMed

Zoghbi WA, Enriquez-Sarano M, Foster E, et al (2003) Recommendations for evaluation of the severity of native valvular regurgitation with two-dimensional and Doppler echocardiography. J Am Soc Echocardiogr 16(7): 777–802.CrossRefPubMed

Title: Cardiac abnormalities in adults with the attenuated form of mucopolysaccharidosis type I
Authors: O. I. I. Soliman
R. G. M. Timmermans
A. Nemes
W. B. Vletter
J. H. P. Wilson
F. J. ten Cate
M. L. Geleijnse
Publication date: 01-10-2007
Publisher: Springer Netherlands
Published in: Journal of Inherited Metabolic Disease / Issue 5/2007
Print ISSN: 0141-8955
Electronic ISSN: 1573-2665
DOI: https://doi.org/10.1007/s10545-007-0586-y

ACC 2024 Congress Coverage

Heart Failure Video

At a glance: The ONWARDS insulin icodec trials

Springer Medicine

Cardiac abnormalities in adults with the attenuated form of mucopolysaccharidosis type I

Summary

Background:

Methods:

Results:

Conclusion:

ACC 2024 Congress Coverage

Year in Review: Heart failure and cardiomyopathies

Semaglutide benefits people with type 2 diabetes and obesity-related heart failure

Incentivised to exercise

New intervention for STEMI-related cardiogenic shock

» View more highlights on the ACC 2024 congress hub page

At a glance: The ONWARDS insulin icodec trials

Springer Medicine

Summary

Background:

Methods:

Results:

Conclusion:

Please log in to get access to this content

Other articles of this Issue 5/2007

Cardiofaciocutaneous (CFC) syndrome associated with muscular coenzyme Q10 deficiency

Successful treatment of severe heart failure in an infant with Hurler syndrome

Peripheral neuropathy and inborn errors of metabolism in adults

Enzyme replacement therapy in 12 patients with MPS I–H/S with homozygous p.Leu490Pro mutation

High frequency of missense mutations in glycogen storage disease type VI

Novel insights into L-2-hydroxyglutaric aciduria: Mass isotopomer studies reveal 2-oxoglutaric acid as the metabolic precursor of L-2-hydroxyglutaric acid

ACC 2024 Congress Coverage

Year in Review: Heart failure and cardiomyopathies

Semaglutide benefits people with type 2 diabetes and obesity-related heart failure

Incentivised to exercise

New intervention for STEMI-related cardiogenic shock

» View more highlights on the ACC 2024 congress hub page