Fabry disease is a genetic disease that results from the build-up of a particular type of fat, called globotriaosylceramide (GB3) in the body. Patients with Fabry disease can have features that include chronic pain, heart disease, kidney disease, and stroke. Fabry disease is caused by mutations in a gene called GLA. This gene provides instructions for making an enzyme called α-galactosidase A. Alpha-galactosidase A normally breaks down GB3. A change in the gene can lead to the enzyme working less effectively. As a result, GB3 builds up in cells throughout the body, particularly cells lining blood vessels in the skin and cells in the kidneys, heart, and nervous system. The progressive accumulation of this substance damages cells, leading to the varied signs and symptoms of Fabry disease.
"Screening for Fabry Cardiomyopathy using Cardiac Magnetic Resonance Imaging (CMR)"
New technology now allows scientists to get a much better scan of the heart using Cardiac Magnetic Resonance Imaging (CMR for short), which is a special MRI targeted to the heart.
The Fabry HCM project will shed light on how good a special application of CMR is at finding patients with Fabry disease who are already known to have hypertrophic cardiomyopathy (thickening of the heart wall).
In patients with Fabry disease, there is a defect in the GLA gene, which is located on the X chromosome. In this project, participants will be genetically tested for any defect in this gene, and results will be compared to their heart scans.
How it works
Subjects found to have hypertrophic cardiomyopathy who consent to be contacted for research purposes will be referred to the research team. At this time, the principal investigator will screen participants according to the inclusion and exclusion criteria. Those who pass these criteria will be contacted by a study coordinator, who will provide potential participants with an informed consent form. If the subject wishes to enroll, the coordinator will send him/her a saliva spit kit for saliva collection. This saliva will then be used for genetic testing.
Subjects with left ventricular hypertrophy based on echocardiography (left ventricular wall thickness ≥15 mm in the absence of hypertension).
1. Uncontrolled hypertension (resting SBP >140 or DBP >90 on medication)
2. Hemodynamically significant aortic valvular stenosis (mean gradient >20 mmHg)
3. Hemodynamically significant coarctation of the aorta (mean gradient >20 mmHg)
4. Confirmed or suspected cardiac amyloidosis
5. Diabetes (Type 1 or 2)
6. Prior myocardial infarction or known Coronary Artery Disease (CAD) by coronary angiography (>70% stenosis)
7. Pregnancy or suspected pregnancy
8. GFR < 45 ml/min/1.73m2
9. Contraindication to magnetic resonance imaging
10. Previous sequenced DNA for HCM or existing diagnosis of a genetic or metabolic cardiomyopathy.
The principal investigator in this study is Dr. Aneal Khan (University of Calgary, Alberta Children's Hospital).
Contact us to obtain more information about the study.