Familial Amyloid Cardiomyopathy Treatment Market – Insights
Familial amyloid cardiomyopathy (FAC), also known as hereditary cardiac transthyretin amyloidosis or hereditary amyloid cardiomyopathy, is the aggregation and deposition of mutant and wild-type transthyretin protein (TTR) in heart. The condition is more prevalent in geriatric population. The protein transthyretin amyloid fibrils infiltrates the myocardium, thereby leading to diastolic dysfunction from restrictive cardiomyopathy. This in turn increases the risk of heart failure. V1221, P24S, V20I, A45T, Gly47Val, I68L, L111M, Glu51Gly, and Gln92Lys are some of the mutations in TTR, which are associated with familial amyloid cardiomyopathy. V1221 is the most common mutation and is substitution of isoleucine for valine at position 122 that occurs in high frequency in African-Americans.