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Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
Published on: June 9, 2018
Transthyretin Cardiac Amyloidosis in Black Americans
Keyur B Shah1, Anit K Mankad2, Adam Castano2
1From the Pauley Heart Center, Division of Cardiology, Virginia Commonwealth University, Richmond (K.B.S., A.K.M., P.B.D.); Division of Cardiology, Hunter Holmes McGuire Veterans Affairs Medical Center, Richmond, VA (A.K.M.); Division of Cardiology, Columbia University Medical Center, New York, NY (A.C., M.S.M.); Queens Heart Institute, Rosedale, NY (O.O.A.); Cardiac Health Management Network, Chester, VA (P.B.D.); and Division of Cardiology, Mount Sinai Medical Center, New York, NY (I.V.F.). kshah@mcvh-vcu.edu.
Abstract:
Transthyretin-related cardiac amyloidosis is a progressive infiltrative cardiomyopathy that mimics hypertensive and hypertrophic heart disease and often goes undiagnosed. In the United States, the hereditary form disproportionately afflicts black Americans, who when compared with whites with wild-type transthyretin amyloidosis, a phenotypically similar condition, present with more advanced disease despite having a noninvasive method for early identification (genetic testing). Although reasons for this are unclear, this begs to consider the inadequate access to care, societal factors, or a biological basis. In an effort to improve awareness and explore unique characteristics, we review the pathophysiology, epidemiology, and therapeutic strategies for transthyretin amyloidosis and highlight diagnostic pitfalls and clinical pearls for identifying patients with amyloid heart disease.
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Amyloid Fibrils
Amyloid deposits were observed as early as 1639 in the liver and the spleen. In 1854, Rudolph Virchow performed iodine staining,...