State-of-the-Art Review
The Role of Cardiac Imaging in the Diagnosis and Management of Anderson-Fabry Disease

https://doi.org/10.1016/j.jcmg.2018.11.039Get rights and content
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Highlights

  • Cardiac involvement in AFD is the most significant contributor to mortality.

  • Echocardiography and CMR aid in the diagnosis and management of AFD.

  • Although AFD is rare, it is treatable and must be ruled out in patients with unexplained left ventricular hypertrophy.

  • Strain and CMR T1 mapping may assist in the early diagnosis of patients with cardiac AFD.

  • These techniques hold significant promise in selecting appropriate candidates for and monitoring response to therapy

Abstract

Anderson-Fabry disease (AFD) is a rare X-linked inherited metabolic disorder which results in a deficiency or absence of the enzyme α-galactosidase A, leading to the accumulation of glycosphingolipids in various cells and organs including the heart. Cardiac involvement is common and results in increased myocardial inflammation, left ventricular hypertrophy (LVH), and myocardial fibrosis. Echocardiography and cardiovascular magnetic resonance (CMR) offer distinctive and often complementary use to assist in the diagnosis and monitoring pharmacologic therapy in AFD, including detection of the AFD cardiac phenotype, differentiation from other forms of LVH, and patient selection for therapeutic intervention. Advanced cardiac imaging holds promise in subclinical detection of AFD-related abnormalities as well as disease staging and prognostication.

Key Words

Anderson-Fabry disease
cardiovascular magnetic resonance
chaperone therapy
echocardiography
enzyme replacement therapy

Abbreviations and Acronyms

AFD
Anderson-Fabry disease
CMR
cardiovascular magnetic resonance
CS
circumferential strain
ERT
enzyme replacement therapy
GLS
global longitudinal strain
HCM
hypertrophic cardiomyopathy
IVS
interventricular septum
LVH
left ventricular hypertrophy
Mdt
mitral inflow deceleration time
PW
posterior wall
RV
right ventricle/ventricular
TDI
tissue Doppler imaging

Cited by (0)

Dr. Linhart is a consultant for Shire, Sanofi Genzyme, and Amicus Therapeutics. All other authors have reported that they have no relationships relevant to the contents of this paper to disclose.