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Updated: Aug 8, 2025

Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
Published on: June 9, 2018
Concurrent Waldenstrom Macroglobulinemia and Mutant Transthyretin Cardiac Amyloidosis
Xiaoxiao Qian1, Hooman Bakhshi1, Rakesh Biswas2
1Departemt of Cardiology, Inova Heart and Vascular Institute, Falls Church, VA, USA.
Abstract:
Cardiac amyloidosis is caused by abnormal deposit of amyloid in the myocardium and can be divided into light chain (AL) amyloidosis and transthyretin (ATTR) amyloidosis. ATTR amyloidosis can be further divided into wild-type and mutant type based on genetic mutation. Differentiation between AL, wild-type, and mutant type ATTR amyloidosis has significant prognostic and therapeutic implications.
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