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Early Cardiac Changes in Children with Anderson–Fabry Disease

  • Stepan Havranek
  • Ales Linhart
  • Zuzana Urbanova
  • Uma RamaswamiEmail author
Research Report
Part of the JIMD Reports book series (JIMD, volume 11)

Abstract

Objective: Limited evidence is available about the early cardiac manifestation of Fabry disease (FD) in children. We aimed to evaluate cardiac involvement in children with FD by analysing serial structural and electrocardiographic changes.

Methods: The data were acquired from 22 children with FD [11 males; median age 9.8 (ranging 2.5–16) years]. Seven patients (5 males) were on enzyme replacement therapy (ERT) with Agalasidase alpha. Echocardiography, ECG and 24-h ECG monitoring recordings were acquired during routine annual clinical controls. ECG data were compared to a group of age-and gender-matched controls.

Results: At baseline, ECG and ECHO parameters of left ventricular mass were similar in both males and females. Three boys (all were on ERT) developed left ventricular hypertrophy (LVH) during two-year follow-up. The progression to LVH was accompanied by the appearance of frequent ventricular premature beats in two cases and supraventricular premature beats (SPBs) with T wave inversion in one case. T wave inversion and SPBs were detected in two younger relatives of a patient with LVH, in the absence of detectable LVH. Seven out of 22 patients had T wave abnormalities. Five of them were males (p = 0.03) all carrying the N215S mutation (p = 0.03). At baseline, median PR intervals were prolonged in FD subjects compared to controls [143 (122–177) vs. 122 (82–165) ms; p < 0.0001].

Conclusions: Cardiac complications of FD become apparent in childhood as subtle changes with slow but detectable progression over time, with males more frequently affected than females. Progression of LVH was apparent in three children despite ERT.

Keywords

Left Ventricular Hypertrophy Left Ventricular Mass Enzyme Replacement Therapy Fabry Disease Wave Inversion 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

Abbreviations

AVB

AV block

ECHO

Echocardiography

ERT

Enzyme replacement therapy

FD

Fabry disease

Holter ECG

24-h ECG monitoring

HR

Heart rate

LV

Left ventricle

LVH

Left ventricular hypertrophy

M

Month

SPBs

Supraventricular premature beats

UR

Uma Ramaswami

VPBs

Ventricular premature beats

Y

Year

Notes

Acknowledgements

We thank the metabolic nurses and the cardiology technicians at Addenbrooke’s Hospital for their help with collating data and performing cardiac ECHO and Holter monitoring.

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Copyright information

© SSIEM and Springer-Verlag Berlin Heidelberg 2013

Authors and Affiliations

  • Stepan Havranek
    • 1
  • Ales Linhart
    • 1
  • Zuzana Urbanova
    • 2
  • Uma Ramaswami
    • 3
    Email author
  1. 1.Department of Medicine – Department of Cardiovascular Medicine, First Faculty of MedicineCharles University in Prague and General University Hospital in PraguePragueCzech Republic
  2. 2.Department of Paediatrics and Adolescent Medicine, First Faculty of MedicineCharles University in Prague and General University Hospital in PraguePragueCzech Republic
  3. 3.Willink Biochemical Genetics UnitCentral Manchester University Hospitals, NHS Foundation TrustManchesterUK

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