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Early cardiovascular remodelling in Fabry disease

  • Original Article
  • Published:
Journal of Inherited Metabolic Disease

Abstract

Aims

Fabry disease (FD) is a rare X-linked genetic disorder caused by the deficiency or absent activity of lysosomal α-galactosidase A. Cardiovascular remodelling is a hallmark of FD. The present study aimed to comprehensively evaluate the cardiac, vascular and microvascular status in a population of patients with genetic mutations for FD without left ventricular hypertrophy (LVH).

Methods and results

This study includes subjects carrying genetic mutations for FD (Fabry disease mutation-carrier, FDMC) without LVH (n = 19). A group of control subjects (n = 19) matched for age, sex, body mass index and cardiovascular risk factors were also included. All subjects underwent echocardiography, carotid ultrasound scan, endothelial flow-mediated dilatation (FMD) and nailfold capillaroscopy (NFC) assessment. When compared to the subjects in the control group, FDMC patients showed significantly lower mean values of systolic myocardial velocity (7.33 ± 1.28 vs. 10.08 ± 1.63 cm/s, p < 0.0001), longitudinal systolic strain (−18.07 ± 1.72 vs. −21.15 ± 2.22 %, p < 0.0001), significantly higher E/E’ mean values (7.15 ± 1.54 vs. 5.98 ± 1.27, p = 0.016) and intima-media thickness mean values (0.80 ± 0.20 vs. 0.61 ± 0.19 mm, p = 0.005), significantly lower FMD (8.3 ± 4.6 vs. 12.2 ± 5.0 %, p = 0.02), more atypical capillaries and irregular NFC architecture in FDMC than control subjects (52.6 vs. 0 %, p < 0.0001; 78.9 vs. 36.8 %, p = 0.02 respectively).

Conclusions

FD progressively involves cardiac, macrovascular and microvascular systems in an early stage. These features are present even in asymptomatic mutation carriers without LVH.

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Acknowledgements

The authors express their gratitude to Caren Conticello for her assistance in revision of the English text.

Funding sources

No extramural funding was used to support this work.

Conflict of interest

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Authors and Affiliations

  1. Department of “Medical and Pediatric Sciences”, University of Catania, Catania, Italy

    Luca Costanzo, Sergio Buccheri, Piera Capranzano, Luigi Di Pino, Giuseppina Curatolo, Stefano Leggio, Anita Blundo, Corrado Tamburino & Ines Monte

  2. CNR, Catania, Italy

    Margherita Rodolico

  3. Ecocardiografia Clinica, A.O.U. Policlinico Vittorio Emanuele, Presidio “Gaspare Rodolico”, Via Santa Sofia 78, 95100, Catania, Italy

    Ines Monte

Authors
  1. Luca Costanzo
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  2. Sergio Buccheri
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  3. Piera Capranzano
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  4. Luigi Di Pino
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  5. Giuseppina Curatolo
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  6. Margherita Rodolico
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  7. Stefano Leggio
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  8. Anita Blundo
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  9. Corrado Tamburino
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  10. Ines Monte
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Corresponding author

Correspondence to Ines Monte.

Additional information

Communicated by: Ed Wraith

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Costanzo, L., Buccheri, S., Capranzano, P. et al. Early cardiovascular remodelling in Fabry disease. J Inherit Metab Dis 37, 109–116 (2014). https://doi.org/10.1007/s10545-013-9607-1

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  • DOI: https://doi.org/10.1007/s10545-013-9607-1

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