Clinical case of hereditary transthyretin amyloidosis

Abstract

Transthyretin amyloidosis (ATTR) is a systemic disease characterized by the deposition of amyloid fi brils in various tissues, leading to progressive neurological manifestations and the development of cardiomyopathy, necessitating timely diagnosis and treatment. This article presents a clinical case of a 74-year-old patient with hereditary transthyretin amyloidosis (ATTRv), diagnosed using non-invasive imaging methods – echocardiography, magnetic resonance imaging, and single-photon emission computed tomography (SPECT-CT) – and confi rmed through molecular genetic analysis revealing a mutation in the TTR gene. The main clinical features of the disease, imaging fi ndings, and therapeutic strategies in the context of the presented case are discussed.

Keywords

• hereditary transthyretin amyloidosis
• cardiomyopat