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Cardiac Amyloidosis

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Clinical Cardiogenetics

Abstract

Cardiac amyloidosis is a broad collection of disorders unified by the end-stage pathology, which arises from deposition of misfolded protein in the heart. This topic is included among cardiogenetic disorders because some subtypes are caused by a genetic predisposition. Pathogenic variants in TTR, the gene encoding transthyretin, diminish the stability of its circulating tetramer, and misfolded mutant transthyretin deposits in the heart, nerves, and other parts of the body. Another relatively common form of cardiac amyloidosis is caused by deposition of monoclonal free light chains, which are produced by plasma cells in the bone marrow. Unfortunately, the etiology and pathogenesis for “wild-type TTR amyloidosis,” one of the most common forms of cardiac amyloid, remains largely unknown. Consequences from the deposition of amyloid proteins in the heart include concentric hypertrophy, heart failure (often with preserved ejection fraction in its earliest stage), and electrical conduction delay. Recent development of novel therapies to stabilize the protein complexes or diminish the production of pathological proteins has enormous potential to improve outcomes for people with cardiac amyloidosis.

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Wong, L.S.M., Judge, D.P. (2020). Cardiac Amyloidosis. In: Baars, H.F., Doevendans, P.A.F.M., Houweling, A.C., van Tintelen, J.P. (eds) Clinical Cardiogenetics. Springer, Cham. https://doi.org/10.1007/978-3-030-45457-9_10

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