title: Cardiac involvement in hereditary-transthyretin related amyloidosis.
abstract: Hereditary transthyretin-related amyloidosis remains a widely underdiagnosed condition, owing to its extreme phenotypic variability: the clinical spectrum of the disease ranges from an almost exclusive neurologic involvement to strictly cardiac manifestations. This heterogeneity is linked to several factors including specific transthyretin mutations, geographic distribution and endemic vs. non-endemic aggregation type. The existence of exclusively or predominantly cardiac phenotypes makes the recognition of the disease very challenging since it can mimic other more common causes of left ventricular "hypertrophy". Assessment of such patients should include an active search for possible red flags that can indicate the correct final diagnosis.
authors.affiliation: Institute of Cardiology, University of Bologna and S.Orsola-Malpighi Hospital, Bologna, Italy. claudio.rapezzi@unibo.it
authors.forename: Claudio
authors.initials: C
authors.lastname: Rapezzi
authors.forename: Simone
authors.initials: S
authors.lastname: Longhi
authors.forename: Agnese
authors.initials: A
authors.lastname: Milandri
authors.forename: Massimiliano
authors.initials: M
authors.lastname: Lorenzini
authors.forename: Christian
authors.initials: C
authors.lastname: Gagliardi
authors.forename: Ilaria
authors.initials: I
authors.lastname: Gallelli
authors.forename: Ornella
authors.initials: O
authors.lastname: Leone
authors.forename: Candida Cristina
authors.initials: CC
authors.lastname: Quarta
mesh_terms: D000686:Amyloidosis / Q000175:diagnosis* / Q000235:genetics; D009202:Cardiomyopathies / Q000175:diagnosis* / Q000235:genetics; D006321:Heart / Q000503:physiopathology*; D006801:Humans; D017379:Hypertrophy, Left Ventricular / Q000175:diagnosis; D009154:Mutation; D011228:Prealbumin / Q000235:genetics*
chemical_list: D011228:Prealbumin