Phenotypic Manifestations of Hereditary ATTR Amyloidosis

Phenotypic Manifestations of Hereditary ATTR Amyloidosis Val50Met Variant in a Non-endemic Area. Descriptive Study

This study focuses on hereditary transthyretin amyloidosis (ATTRv) with the Val50Met variant in a non endemic aerea

We aim to describe the phenotypic variables including preclinical, cardiological, neurological, and mixed manifestations in patients carrying the Val50Met variant. Our goal is to identify early disease onset criteria in initially asymptomatic patients, enhancing early detection and treatment strategies. Participants will undergo various clinical examinations and tests to gather comprehensive data.

Inclusion Criteria:

• All subjects between 20 and 70 years of age, carriers of the Val50Met variant

Exclusion Criteria:

• Patients who refuse to participate.