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Role of cardiac MRI in evaluating patients with Anderson-Fabry disease: assessing cardiac effects of long-term enzyme replacement therapy

Ruolo della RM cardiaca nello studio dei pazienti con malattia di Anderson-Fabry: valutazione degli effetti cardiaci della terapia enzimatica sostitutiva a lungo termine

  • Cardiac Radiology / Cardioradiologia
  • Published:
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Abstract

Purpose

Anderson-Fabry disease is a multisystemic disorder of lipid metabolism secondary to X-chromosome alterations and is frequently associated with cardiac manifestations such as left ventricular (LV) hypertrophy, gradually leading to an alteration in cardiac performance. The purpose of this study was to monitor, using magnetic resonance imaging (MRI), any changes produced by enzyme replacement therapy with agalsidase beta at the cardiac level in patients with Anderson-Fabry disease.

Materials and methods

Sixteen (ten men, six women) patients with genetically confirmed Anderson-Fabry disease underwent cardiac MRI before starting enzyme replacement therapy (baseline study) and after 48 months of treatment with agalsidase beta at the dose of 1 mg/kg (follow-up study).

Results

After 48 months of treatment, a significant reduction in LV mass and wall thickness was observed: 187±59 g vs. 149±44 g, and 16±3 mm vs. 13±3 mm, respectively. A significant reduction in T2 relaxation time was noted at the level of the interventricular septum (81±3 ms vs. 67±7 ms), at the apical level (80±8 ms vs. 63±6 ms) and at the level of the lateral wall (82±8 ms vs. 63±10 ms) (p<0.05). No significant variation was observed in ejection fraction between the two studies (65±3% vs. 64±2%; p>0.05) (mean bias 1.0); however, an improvement was noted in the New York Heart Association (NYHA) class of the majority of patients (12/16) (p<0.05).

Conclusions

In patients with Anderson-Fabry disease undergoing enzyme replacement therapy with agalsidase beta, MRI documented a significant reduction in myocardial T2 relaxation time, a significant decrease in maximal myocardial thickness and in total LV mass. MRI did not reveal significant improvements in LV global systolic function; however, improvement in NYHA functional class was noted, consistent with improved diastolic function.

Riassunto

Obiettivo

La malattia di Anderson-Fabry è un disordine multi-sistemico del metabolismo lipidico, secondario ad una alterazione del cromosoma X ed è frequentemente associata a sintomi cardiaci come l’ipertrofia ventricolare sinistra, che gradualmente conduce ad una alterazione della performance cardiaca. Lo scopo di questo studio è stato di monitorare con risonanza magnetica (RM) i cambiamenti che la terapia enzimatica sostitutiva, con agalsidase beta, è in grado di indurre a livello cardiaco, nei pazienti affetti da malattia di Anderson-Fabry.

Materiali e metodi

Sedici pazienti (10 maschi, 6 donne) con diagnosi di malattia di Anderson-Fabry, geneticamente confermata, sono stati studiati con RM cardiaca, prima di iniziare la terapia enzimatica sostitutiva (studio basale) e dopo 48 mesi di terapia, con agalsidase beta alla dose di 1 mg/kg (follow-up).

Risultati

Dopo 48 mesi di terapia, si è osservata una significativa riduzione dei valori di massa e dello spessore di parete del ventricolo sinistro (VS): 187±59 g vs 149±44 g, e 16±3 mm vs 13±3 mm, rispettivamente. Una significativa riduzione del tempo di rilassamento T2 è stata osservata a livello del setto inter-ventricolare 81±3 ms vs 67±7 ms, a livello dell’apice 80±8 ms vs 63±6 ms ed a livello della parete laterale 82±8 ms vs 63±10 ms (p<0,05). Non sono state osservate variazioni significative nei valori di frazione d’eiezione tra i due studi (65±3% vs 64±2%; p>0,05) (bias medio 1,0), tuttavia si è osservato un miglioramento della classe secondo la New York Heart Association (NYHA) nella maggior parte dei pazienti studiati (12/16) (p<0,05).

Conclusioni

Nei pazienti affetti da malattia di Anderson-Fabry ed in terapia enzimatica sostitutiva con agalsidase beta, la RM documenta una significativa riduzione del tempo di rilassamento T2 miocardico, una significativa riduzione degli spessori massimi miocardici e della massa ventricolare totale sinistra. La RM non rileva un significativo miglioramento della funzionalità sistolica globale del ventricolo sinistro, tuttavia assistiamo ad un miglioramento della classe funzionale NYHA, compatibile con un miglioramento della funzionalità diastolica.

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Correspondence to M. Imbriaco.

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Messalli, G., Imbriaco, M., Avitabile, G. et al. Role of cardiac MRI in evaluating patients with Anderson-Fabry disease: assessing cardiac effects of long-term enzyme replacement therapy. Radiol med 117, 19–28 (2012). https://doi.org/10.1007/s11547-011-0710-9

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  • DOI: https://doi.org/10.1007/s11547-011-0710-9

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