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

Published online by Cambridge University Press:  01 April 2009

Vlasta Fesslová ,
Paola Corti ,
Giovanna Sersale ,
Attilio Rovelli ,
Pierluigi Russo ,
Savina Mannarino ,
Gianfranco Butera  and
Rossella Parini
Vlasta Fesslová*
Affiliation:
Department of Pediatric Cardiology, Cardiovascular Center, Policlinico San Donato, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Milan
Paola Corti
Affiliation:
Department of Pediatrics, Bone Marrow Transplantation Unit, University of Milan-Bicocca, San Gerardo Hospital, Monza
Giovanna Sersale
Affiliation:
Department of Pediatrics, Centro “Fondazione Mariani” per le Malattie Metaboliche dell’Infanzia, University of Milan-Bicocca, San Gerardo Hospital, Monza
Attilio Rovelli
Affiliation:
Department of Pediatrics, Bone Marrow Transplantation Unit, University of Milan-Bicocca, San Gerardo Hospital, Monza
Pierluigi Russo
Affiliation:
Department of Cardiology, San Gerardo Hospital, Monza
Savina Mannarino
Affiliation:
Department of Pediatric Cardiology, Policlinico San Matteo, Pavia, Italy
Gianfranco Butera
Affiliation:
Department of Pediatric Cardiology, Cardiovascular Center, Policlinico San Donato, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Milan
Rossella Parini
Affiliation:
Department of Pediatrics, Centro “Fondazione Mariani” per le Malattie Metaboliche dell’Infanzia, University of Milan-Bicocca, San Gerardo Hospital, Monza
*
Correspondence to: Vlasta Fesslova, MD, Dpt. Ped.Cardiology, Cardiovascular Center, Policlinico San Donato IRCCS, Via Morandi 30, San Donato Milanese, Milano 20097, Italy. Tel: +39 02 52774 511/45; Fax: +39 02 52774 459; E-mail: [email protected]
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Abstract

Objective

To analyze cardiac involvement and its progression in mucopolysaccharidoses, and to assess the short term impact of new therapeutic strategies.

Patients and methods

We studied echocardiographically 57 patients with various types of mucopolysaccharidoses, specifically types I, II, III, IV and VI, with a median age at the diagnosis of cardiac involvement of 5 years, following them for a median of 4.6 years, with a range from 0.9 to 21.2 years. We used a scoring system, along with the so-called delta score, to quantify the severity of involvement at baseline and at last examination, and to chart their progression over time.

Results

Cases with cardiac involvement increased from 59.6% to 87.3% at the last examination. The scores increased with age, and were significantly different according to the specific type of mucopolysaccharidosis. Involvement of the mitral valve was most common, often associated with an aortic valvar anomaly and/or left ventricular hypertrophy. Patients with the first and second types had more severe involvement than those with the third or fourth types. Patients undergoing transplantation of haematopoietic stem cells seem to stabilize after an initial worsening while, in contrast, we were unable to demonstrate an effect of enzyme replacement therapy on the progression of the cardiac disease, possibly because those receiving such treatment had a higher median age, more severe cardiac disease and shorter follow-up.

Conclusions

Cardiac involvement was present early in more than a half of the patients identified as having mucopolysaccharidosis, and generally progressed, being more frequent and severe in the first and second types of the disease. Longer follow-up is needed to demonstrate any significant improvement induced by new therapies.

Keywords

lysosomal storage disordershaematopoietic stem cell transplantationenzyme replacement therapycardiac anomaliesechocardiography
Type
Original Article
Information
Cardiology in the Young , Volume 19 , Issue 2 , April 2009 , pp. 170 - 178
Copyright
Copyright © Cambridge University Press 2009

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