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Papers of the Week

Papers: 1 Oct 2022 - 7 Oct 2022

2022 Oct 03

Curr Probl Cardiol

Cardiac involvement in Fabry Disease and the Role of Multimodality Imaging in Diagnosis and Disease Monitoring.


Umer M, Motwani M, Jefferies JL, Kalra DK
Curr Probl Cardiol. 2022 Oct 03:101439.
PMID: 36202174.


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.