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And then, when we move into adulthood, then it's really back to doing the complete opportunity for surveillance, recognizing the concern for arrhythmia, recognizing the concern for early MI, recognizing the concern for cardiomyopathy, and tailoring your surveillance strategy around those things. And for me, I think a complete surveillance strategy should include imaging and, preferably, cardiac MRI.

If you have a concern of valvular disease, you may also, obviously, add echocardiography, which is completely fine. Opportunity for some sort of extended ECG monitoring such as a Holter. And then, sometimes we will pursue stress testing as well.

So all of those things are facets to monitoring patients over time, and then you have to use a little bit of clinical insight. And if patients are continuing to complain of symptoms, and let's say it's palpitations, and you're never fortunate enough to capture them on a Holter monitor, perhaps you consider something more expansive such as a loop recorder-- which we've done.

And for patients that had had presyncopal and syncopal attacks, we were very concerned. They were distant, but they were still concerning. And so we put in a loop recorder in a female and actually found not-sustained ventricular tachycardia. The patient went on to get an ICD collectively and subsequently had two appropriate shocks.

So Fabry is one of those populations where you want to think about all the technologies that you have at your disposal to help you to understand the complete cardiac phenotype, if you will.

Video

What are the CV manifestations of FD disease in the adult population and how does the triad of arrhythmias, early MI, and/or cardiomyopathy set into motion diagnostic tests and surveillance strategies to evaluate the presence of FD?

What are the CV manifestations of FD disease in the adult population and how does the triad of arrhythmias, early MI, and/or cardiomyopathy set into motion diagnostic tests and surveillance strategies to evaluate the presence of FD?


Created by

CMEducation Resources IQ&A Fabry Disease Diagnostic Intelligence Zone

Presenter

John Jefferies, MD

John Jefferies, MD

Jay M. Sullivan Endowed Chair in Cardiovascular Medicine
Chief of Cardiology
University of Tennessee Health Science Center (UTHSC)
Co-Director, UT Methodist Institute for Cardiovascular Science
University of Tennessee Heart Institute
Memphis, TN