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Cardiac Imaging Research SA


Identification of Atypical Fabry’s Disease in a Cardiac Population

Fabry’s Disease is a rare genetic disorder that affects many organ systems in the body including the kidneys, skin and the heart. The defect is due to a deficiency of an enzyme, which then leads to the accumulation of a sphingolipid (a type of lipid or fat) in various tissues. In the heart, it presents as a minor thickening of the heart muscle wall which can be easily detected on an echocardiogram (ultrasound of the heart). The objective of the study is to identify the incidence of Fabry’s Disease in people with above mentioned heart involvement. We perform a screening test with 4 drops of blood (obtained by a finger prick) soaked onto a dried blood spot (DBS) card.


A negative test is suggestive of the absence of the condition, however a positive test is then further confirmed by a second more specialized blood test. Through obtaining this information we can better inform health care workers throughout the country on the importance of Fabry’s Disease diagnostic testing in other patients.