TY - JOUR
T1 - Cardiac Involvement in Fabry Disease and the Role of Multimodality Imaging in Diagnosis and Disease Monitoring
AU - Umer, Muhammad
AU - Motwani, Manish
AU - Jefferies, John L.
AU - Nagueh, Sherif F.
AU - Kalra, Dinesh K.
N1 - Copyright © 2022 Elsevier Inc. All rights reserved.
PY - 2023/1
Y1 - 2023/1
N2 - Fabry disease (FD) is a rare, progressive, X-linked inherited disorder of glycosphingolipid metabolism. It is a monogenic disease due to α-galactosidase A (α-GAL) enzyme deficiency, leading to the accumulation of globotriaosylceramide (GL3) within lysosomes beginning in utero. Multiple systems are involved, most notably the vascular, renal, cardiac, and nervous systems. Early clinical manifestations include neuropathic pain, angiokeratomas, anhidrosis, cornea verticillata, and gastrointestinal symptoms. In the later stages, FD manifests with transient ischemic attacks, strokes, hearing loss, and life-threatening complications involving the kidneys and heart. Cardiac involvement in Fabry disease is typically characterized by increased left ventricular wall thickness/mass, functional abnormalities, valvular heart disease, arrhythmias, and heart failure. The life expectancy of the patient with untreated Fabry disease falls significantly once cardiac or renal manifestations develop. This review will focus on the cardiac manifestations of FD and the role of multimodality imaging in diagnosis and follow-up.
AB - Fabry disease (FD) is a rare, progressive, X-linked inherited disorder of glycosphingolipid metabolism. It is a monogenic disease due to α-galactosidase A (α-GAL) enzyme deficiency, leading to the accumulation of globotriaosylceramide (GL3) within lysosomes beginning in utero. Multiple systems are involved, most notably the vascular, renal, cardiac, and nervous systems. Early clinical manifestations include neuropathic pain, angiokeratomas, anhidrosis, cornea verticillata, and gastrointestinal symptoms. In the later stages, FD manifests with transient ischemic attacks, strokes, hearing loss, and life-threatening complications involving the kidneys and heart. Cardiac involvement in Fabry disease is typically characterized by increased left ventricular wall thickness/mass, functional abnormalities, valvular heart disease, arrhythmias, and heart failure. The life expectancy of the patient with untreated Fabry disease falls significantly once cardiac or renal manifestations develop. This review will focus on the cardiac manifestations of FD and the role of multimodality imaging in diagnosis and follow-up.
KW - Humans
KW - Fabry Disease/complications
KW - alpha-Galactosidase/metabolism
KW - Kidney
KW - Stroke
KW - Arrhythmias, Cardiac
UR - http://www.scopus.com/inward/record.url?scp=85141444417&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85141444417&partnerID=8YFLogxK
U2 - 10.1016/j.cpcardiol.2022.101439
DO - 10.1016/j.cpcardiol.2022.101439
M3 - Review article
C2 - 36202174
AN - SCOPUS:85141444417
SN - 0146-2806
VL - 48
SP - 101439
JO - Current Problems in Cardiology
JF - Current Problems in Cardiology
IS - 1
M1 - 101439
ER -