Delayed Diagnosis of Hereditary Transthyretin Cardiac Amyloidosis Presenting with Autonomic Neuropathy: A Case Report

Background

As a rare disease, cardiac amyloidosis (CA) has seen a deepening of epidemiological understanding, driven by advances in imaging and genetic testing, alongside drug development. However, the identification of suspected patients in the early stages remains inadequate. Case Presentation: Our 64-year-old patient carrying the rare transthyretin variant p.Gly67Val (legacy nomenclature Gly47Val) originally presented with lower limb numbness, resulting in prolonged follow-up at neurology outpatient clinics. Subsequently, unexplained hypotension led to hospital admission. The atypical early symptoms and inaccessibility of relevant tests delayed diagnosis and treatment.