Fabry disease

Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations.

Chest pain

An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the chest.


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(per page)
PMID (PMCID)
26989114
 FEMALE Middle Aged
Atypical patterns of cardiac involvement in Fabry disease.
Coughlan JJ, Elkholy K, O'Brien J, Kiernan T.
BMJ Case Rep. 2016;2016:.
A 58-year-old woman was referred to our cardiology service with chest pain, exertional dyspnoea and palpitations on a background of known Fabry disease diagnosed with genetic testing in 1994.
16669184
 FEMALE Middle Aged
Detection of Anderson-Fabry cardiomyopathy with CMR in a patient with chest pain and elevated cardiac biomarkers.
Albin G, Ryan M, Heltne C.
J Cardiovasc Magn Reson. 2006;8(2):399-404.
This case illustrates the utility of CMR in evaluating a patient with undiagnosed Anderson-Fabry disease who presented with chest pain, elevated cardiac biomarkers, normal coronary arteries, and an abnormal echocardiogram.