Abstract
Often considered a rare disease, cardiac amyloidosis is increasingly recognized by practicing clinicians. The increased rate of diagnosis is in part due the aging of the population and increasing incidence and prevalence of cardiac amyloidosis with advancing age, as well as the advent of noninvasive methods using nuclear scintigraphy to diagnose transthyretin cardiac amyloidosis due to either variant or wild type transthyretin without a biopsy. Perhaps the most important driver of the increased awareness is the elucidation of the biologic mechanisms underlying the pathogenesis of cardiac amyloidosis which have led to the development of several effective therapies with differing mechanisms of actions. In this review, the mechanisms underlying the pathogenesis of cardiac amyloidosis due to light chain (AL) or transthyretin (ATTR) amyloidosis are delineated as well as the rapidly evolving therapeutic landscape that has emerged from a better pathophysiologic understanding of disease development.
Keywords:
amyloidosis; biopsy; cardiomyopathy; incidence; light chain; prevalence; rare disease; transthyretin.
Publication types
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Research Support, N.I.H., Extramural
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Review
MeSH terms
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Aging
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Alkylating Agents / therapeutic use
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Amyloid / chemistry
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Amyloid / metabolism
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Amyloid Neuropathies, Familial / diagnosis
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Amyloidosis / diagnosis
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Amyloidosis / etiology*
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Amyloidosis / physiopathology
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Amyloidosis / therapy*
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Antibodies, Monoclonal / therapeutic use
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Benzoates / therapeutic use
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Benzoxazoles / therapeutic use
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Bridged Bicyclo Compounds, Heterocyclic / therapeutic use
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Cardiomyopathies / diagnosis
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Cardiomyopathies / etiology*
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Cardiomyopathies / physiopathology
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Cardiomyopathies / therapy*
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Catechol O-Methyltransferase Inhibitors / therapeutic use
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Heart Transplantation
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Humans
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Immunomodulating Agents / therapeutic use
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Oligonucleotides / therapeutic use
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Proteasome Inhibitors / therapeutic use
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Protein Folding
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Pyrazoles / therapeutic use
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RNA, Small Interfering / therapeutic use
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Stem Cell Transplantation
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Sulfonamides / therapeutic use
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Tolcapone / therapeutic use
Substances
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3-(3-(3,5-dimethyl-1H-pyrazol-4-yl)propoxy)-4-fluorobenzoic acid
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Alkylating Agents
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Amyloid
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Antibodies, Monoclonal
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Benzoates
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Benzoxazoles
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Bridged Bicyclo Compounds, Heterocyclic
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Catechol O-Methyltransferase Inhibitors
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Immunomodulating Agents
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Oligonucleotides
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Proteasome Inhibitors
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Pyrazoles
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RNA, Small Interfering
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Sulfonamides
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Inotersen
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daratumumab
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patisiran
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tafamidis
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Tolcapone
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venetoclax
Supplementary concepts
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Amyloidosis, Hereditary, Transthyretin-Related