Cardiac amyloidosis

evolving pathogenesis, multimodal diagnostics, and principles of treatment




cardiac amyloidosis, ATTR amyloidosis, gene therapy, amyloid, cardiomyopathy, CRISPR


Amyloidosis is a protein deposition disorder in which insoluble fibril structures accumulate in the bodily tissues damaging the organ function. Cardiac amyloidosis is a severe but under-reported medical condition characterized by the accumulation of amyloid in the extracellular area of the myocardium, which results in thickening and stiffening of ventricular walls. Cardiac amyloidosis has recently gained much attention with its slowly surging incidence. With this study, we seek to comprehensively compile the pathophysiology and clinical picture of cardiac amyloidosis subtypes, extending a clinically oriented, up-to-date clinical approach to diagnosis and therapy. Cardiac amyloidosis can be caused by rare genetic mutations which may be inherited or acquired. The growing incidence can be attributed to advancements in imaging methods and other diagnostic modalities. Most occurrences of cardiac amyloidosis result from two forms of precursor protein: transthyretin [TTR] amyloid and immunoglobulin-derived light-chain amyloid. Prompt identification of cardiac amyloidosis can facilitate the implementation of evolving therapeutic interventions to enhance the outcomes. The modalities for the management of CA have evolved significantly in the last ten years. Apart from therapies for modifying disease and heart failure, a myriad of novel therapeutic approaches that target specific aspects of the disease, including gene therapies, are being researched. These aim at impeding its progression and improving clinical outcomes.



How to Cite

Medarametla, G. D., Kahlon, R. S., Mahitha, L., Shariff, S., Vakkalagadda, N. P., Chopra, H., … Kaka, N. (2023). Cardiac amyloidosis: evolving pathogenesis, multimodal diagnostics, and principles of treatment. EXCLI Journal, 22, 781–808.



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