Familial amyloid cardiomyopathy (FAC), or transthyretin amyloid cardiomyopathy (ATTR-CM) results from the aggregation and deposition of mutant and wild-type transthyretin (TTR) protein in the heart.[1] TTR is usually circulated as a homo-tetramer—a protein made up of four identical subunits—however, in FAC populations, TTR dissociates from this typical form and misassembles into amyloid fibrils which are insoluble and resistant to degradation.[2] Due to this resistance to degradation, when amyloid fibrils accumulate in the heart's walls, specifically the left ventricle, rigidity prevents the heart from properly relaxing and refilling with blood: this is called diastolic dysfunction which can ultimately lead to heart failure.[2]
^Jacobson, D. R., Pastore, R. D., Yaghoubian, R., Kane, I., Gallo, G., Buck, F. S. & Buxbaum, J. N. (1997). Variant-sequence transthyretin (isoleucine 122) in late-onset cardiac amyloidosis that occurs in black Americans. The New England Journal of Medicine 336, 466-73.
^ abRuberg, Frederick L.; Berk, John L. (2012-09-04). "Transthyretin (TTR) Cardiac Amyloidosis". Circulation. 126 (10): 1286–1300. doi:10.1161/CIRCULATIONAHA.111.078915. ISSN 0009-7322. PMC 3501197. PMID 22949539.
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