Early Diagnosis of Hereditary Cardiac Amyloidosis in a Carrier of the Ile88Leu Mutation: Is Endomyocardial Biopsy Indicated?

Variant transthyretin amyloidosis (ATTR-v) is an inherited systemic rare disease associated with high mortality.Disease-modifying drugs are more effective the earlier they are started.Identification of early cardiac involvement is a clinical priority in order to start therapy as early as possible.A 56-year-old man was shown to be a carrier of the Ile88leu mutation of the transthyretin (TTR) gene in the context of a family screening.The initial identification of disease allowed for an early start of specific therapy.