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

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What is the spectrum of cardiovascular manifestations of FD? What is the age of onset? Why is it important that we recognize the cardiovascular clinical phenotypes—arrhythmias, hypertrophic cardiomyopathy, stroke, etc.—of FD?

John Jefferies, MD

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What surveillance strategies, in the context of cardiovascular disease, optimize early detection, assessment, and monitoring of patients with suspected or confirmed FD?

John Jefferies, MD

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How does the pathophysiology of Fabry, as a lysosomal disorder, produce the wide range of CV manifestations that should alert physicians to suspect FD as an underlying cause for unexplained symptoms in men and women?

John Jefferies, MD

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Given the new therapies—including chaperone therapy with migalastat and ERT—available for FD, why do you believe there should be a “call to action” among the CV community that would heighten awareness of this disease?

John Jefferies, MD

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What is the rationale for disciplined surveillance systems for FD patients with either asymptomatic CV or those in whom the diagnosis has been confirmed?

John Jefferies, MD

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Are there prospective studies that, in fact, are designed to evaluate the effects of currently approved chaperone- and ERT-based treatments for FD on the progression of CV complications of FD?

John Jefferies, MD

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Although GI and dermatologic manifestations tend to dominate the clinical phenotype of FD in childhood, are there cardiovascular manifestations—i.e. arrhythmias—in this subgroup that might point to the disease?

John Jefferies, MD

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How do the CV manifestations of FD disease change and/or present during adolescence? And what is the role of cardiac MRI in this age group and how does it help you identify the FD phenotype?

John Jefferies, MD

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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?

John Jefferies, MD

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There is sometimes a preconception that women, who are “carriers” for FD, do not suffer from CV complications and the diagnosis is missed or delayed with adverse consequences. Can you elaborate on this?

John Jefferies, MD

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Can you provide a roadmap for a disciplined approach for detecting, screening, and diagnosing patients who present with specific findings, family history, and/or a clinical phenotype—hypertrophic cardiomyopathy, in particular—suggestive of FD?

John Jefferies, MD

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What guidance can you give your cardiologist colleagues to enhance detection patients with FD? What collateral co-morbidities should be investigated? And how is your management strategy changed if the diagnosis of FD is confirmed?

John Jefferies, MD