TY - JOUR
T1 - The Role of Cardiac Imaging in the Diagnosis and Management of Anderson-Fabry Disease
AU - Perry, Rebecca
AU - Shah, Ranjit
AU - Saiedi, Madiha
AU - Patil, Sanjana
AU - Ganesan, Anand
AU - Linhart, Ales
AU - Selvanayagam, Joseph B.
PY - 2019/7
Y1 - 2019/7
N2 - 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.
AB - 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.
KW - Anderson-Fabry disease
KW - cardiovascular magnetic resonance
KW - chaperone therapy
KW - echocardiography
KW - enzyme replacement therapy
UR - http://www.scopus.com/inward/record.url?scp=85067503375&partnerID=8YFLogxK
U2 - 10.1016/j.jcmg.2018.11.039
DO - 10.1016/j.jcmg.2018.11.039
M3 - Review article
C2 - 31272606
AN - SCOPUS:85067503375
SN - 1936-878X
VL - 12
SP - 1230
EP - 1242
JO - JACC: Cardiovascular Imaging
JF - JACC: Cardiovascular Imaging
IS - 7
ER -