Learning objectives
Know how to perform cardiac magnetic resonance imaging (CMR) in Fabry disease (FD) suspicion or evaluation
Identify CMR semiological elements suggestive of FD
Identify early FD heart involvement
Know the differential diagnosis of left ventricular hypertrophy and isolated T1 relaxometry decrease
Background
I.Introduction
Anderson Fabry disease (FD) is a progressive X-linked genetic disorder (mutations in theGLAgene) caused by absent or deficientalpha-galactosidase A.It results in the deposition ofglobotriaosylsphingosine (Gb3) and its derivative (lyso-Gb3) within lysosomes (1).
Multi-organ involvement is a characteristic during FD cardiac variant is usually limited to the heart. The renal and cardiac disease may be life-threatening.
Cardiac damage is a turning point in FD.
Common clinical manifestations of classic form are:
neuropathic pain
hypohidrosis
angiokeratoma
cornea verticillata (pathognomonic)
lymphoedema
-Myocardial damage includes hypertrophy, inflammation, and...
Findings and procedure details
I.CMR technique and classic findings
A. Classic CMR FD semiology
LV hypertrophy and increased cardiac mass
- During the course of FD, LVH is more frequent in women than in men (7).
- CMR is the gold standard for LVH quantification, LV ejection fraction (LVEF) measurement and thus cardiac mass assessment.
LVH during FD is usually concentric but may be asymmetric.
Steady-state free precession (SSFP) dynamic sequences display the heart movement during the cardiac cycle in the different heart plans':
4 chambers long-axis view
2...
Conclusion
FD is a rare linked to X disorder resulting in lysosomal deposition ofglobotriaosylsphingosine (Gb3).
Cardiac involvement is a turning point during FD and justifies medication.
CMR enables early diagnosis and follow-up.
In the late stages of FD therapeutics are less effective.
The CMR presentation of FD varies with the patient's age and gender; it also varies with the stage of the disorder.
Early-stage: reduced T1 mapping is the main CMR sign.
Advanced stages: increased LV mass and T1 stays low.
LGE is mainly seen in...
Personal information and conflict of interest
H. Chennoufi:
Nothing to disclose
F. Labombarda:
Nothing to disclose
A-C. Brehin:
Nothing to disclose
E. Deborde:
Nothing to disclose
J-N. Dacher:
Nothing to disclose
References
Kampmann C, Baehner F, Whybra C, et al.Cardiac manifestations of Anderson-Fabry disease in heterozygous females.J Am Coll Cardiol. 2002;40(9):1668-1674.
C. Chimenti, M. Pieroni, E. Morgante,et al.Prevalence of Fabry disease in female patients with late-onset hypertrophic cardiomyopathy;Circulation, 110 (2004), pp. 1047-1053
F. Weidemann, F. Breunig, M. Beer,et al.Improvement of cardiac function during enzyme replacement therapy in patients with Fabry disease: a prospective strain rate imaging study;Circulation, 108 (2003), pp. 1299-1301
A. Linhart, T. Palecek, J. Bultas,et al.New insights in cardiac structural changes in patients with Fabry's...