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AAHFN Posters

P008 - Referral and Diagnosis of Hereditary Transthyretin Amyloidosis by Heart Failure Nursing Specialists in the United States: Insights From a Genetic Testing Program


BACKGROUND •Hereditary transthyretin amyloidosis (hATTR or ATTRv[variant]) is a progressive and fatal disease caused by mutations in the transthyretin (TTR) gene. These mutations lead TTR to misfold and deposit as insoluble amyloid fibrils in major organs and systems, resulting in multisystem dysfunction •Cardiomyopathy, resulting in heart failure and arrhythmias, is a frequent manifestation of hATTR •The peripheral nervous system is often affected, leading to polyneuropathy. The polyneuropathy manifestations include autonomic manifestations, such as orthostatic hypotension •Early diagnosis, which can be facilitated with genetic testing, and treatment are key to achieving optimal patient outcomes OBJECTIVE •To describe the characteristics of patients with TTRmutations compared with patients with mutations associated with other inherited cardiovascular diseases that can mimic the symptoms of hATTR


Tags: Research

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Alina Antanesian
6/17/21 12:28 pm

very informative