Phenotypic spectrum and management of 25 patients ATTR Val122Ile (P5.073)
CONCLUSIONS: Diagnosis of ATTR amyloidosis should be suspected in patients with late onset severe hypertrophic cardiomyopathy. Val122Ile mutation can also be found in Caucasian individual. A mild to severe small and large fiber sensory and autonomic neuropathy is frequently associated as well as carpal tunnel syndrome. Tafamidis oral treatment or combined liver and heart transplant are current therapeutic options in these patients. Prognosis ATTR-Val122Ile is linked to the prominent cardiac amyloidosis. Early diagnosis is desirable. Study Supported by:Disclosure: Dr. Salhi has nothing to disclose. Dr. Lefaucheur has nothing to disclose. Dr. Gorram has nothing to disclose. Dr. Rappeneau has nothing to disclose. Dr. Funalot has nothing to disclose. Dr. Fanen has nothing to disclose. Dr. Coste has nothing to disclose. Dr. Damy has nothing to disclose. Dr. Planté-Bordeneuve has nothing to disclose.
Source: Neurology - Category: Neurology Authors: Salhi, H., Lefaucheur, J. P., Gorram, F., Rappeneau, S., Funalot, B., Fanen, P., Coste, B., Damy, T., Plante-Bordeneuve, V. Tags: Neuropathy: Pathogenesis and Pathology Source Type: research
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