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AAHFN Posters

P007 - Genotypic and Phenotypic Differences and Similarities Among Patients With Inherited Cardiovascular Diseases: Insights From a Genetic Testing Program


INTRODUCTION •Hereditary transthyretin amyloidosis (hATTR/ATTRv) is a progressive and fatal disease caused by mutations in the transthyretin (TTR) gene •These mutations destabilize protein folding, resulting in amyloid deposits and causing multisystem dysfunction such as cardiomyopathy (CM), whose etiology may be attributed to traditional causes of cardiovascular diseases •Genetic testing is required for determining a diagnosis of hATTR/ATTRvwith CM OBJECTIVE •To describe the prevalence and characteristics of patients with TTRmutations versus patients with mutations associated with other inherited cardiovascular conditions


Tags: Research

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Alina Antanesian
6/17/21 12:20 pm

excellent and very informative! im fascinated with amyloidosis and its complexities. Great job on a difficult topic