Unusual presentation of rare Phe33Leu mutation in hereditary TTR cardiac amyloidosis.

Abstract excerpt

Introduction: Hereditary TTR cardiac amyloidosis (ATTRv-CM) is a progressive and rare autosomal dominant disease, causing the formation of insoluble amyloid fibrils that deposit in the heart and nervous tissue. Case description: The authors present a 64-year-old man who was found to have the Phe33Leu mutation causing ATTRv-CM without any neurological signs or symptoms. He presented with persistent atrial...

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