Hereditary ATTR Amyloidosis in Austria: Prevalence and Epidemiological Hot Spots

Abstract

Our study underlined the relevance of hATTR in the pathogenesis of amyloid-driven cardiomyopathy and axonal polyneuropathy and indicated considerable genetic heterogeneity of this disease in the Austrian population. The estimated prevalence of hATTR in Austria based on this study is 1:200,000 but a potentially higher number of unknown cases must be taken into account. With respect to new therapeutic approaches, we strongly propose genetic testing of the <i>TTR</i> gene in an extended cohort of patients with unexplained heart failure and progressive polyneuropathy.