title: Cardiac amyloidosis: the great pretender.
abstract: Cardiac amyloidosis (CA) is often misdiagnosed because of both physician-related and disease-related reasons including: fragmented knowledge among different specialties and subspecialties, shortage of centres and specialists dedicated to disease management, erroneous belief it is an incurable disease, rarity of the condition, intrinsic phenotypic heterogeneity, genotypic heterogeneity in transthyretin-related forms and the necessity of target organ tissue histological diagnosis in the vast majority of cases. Pitfalls, incorrect beliefs and deceits challenge not only the path to the diagnosis of CA but also the precise identification of aetiological subtype. The awareness of this condition is the most important prerequisite for the management of the risk of underdiagnoses and misdiagnosis. Almost all clinical, imaging and laboratory tests can be misinterpreted, but fortunately each of these diagnostic steps can also offer diagnostic "red flags" (i.e. highly suggestive findings that can foster the correct diagnostic suspicion and facilitate early, timely diagnosis). This is especially important because outcomes in CA are largely driven by the severity of cardiac dysfunction and emerging therapies are aimed at preventing further amyloid deposition.
authors.affiliation: Cardiology, Department of Experimental, Diagnostic and Specialty Medicine - DIMES, Alma Mater Studiorum, University of Bologna, Bologna, Italy, claudio.rapezzi@unibo.it.
authors.forename: Claudio
authors.initials: C
authors.lastname: Rapezzi
authors.forename: Massimiliano
authors.initials: M
authors.lastname: Lorenzini
authors.forename: Simone
authors.initials: S
authors.lastname: Longhi
authors.forename: Agnese
authors.initials: A
authors.lastname: Milandri
authors.forename: Christian
authors.initials: C
authors.lastname: Gagliardi
authors.forename: Ilaria
authors.initials: I
authors.lastname: Bartolomei
authors.forename: Fabrizio
authors.initials: F
authors.lastname: Salvi
authors.forename: Mathew S
authors.initials: MS
authors.lastname: Maurer
mesh_terms: D028227:Amyloid Neuropathies, Familial / Q000175:diagnosis* / Q000235:genetics; D009202:Cardiomyopathies / Q000175:diagnosis* / Q000235:genetics; D003951:Diagnostic Errors; D004452:Echocardiography; D004562:Electrocardiography; D005838:Genotype; D006801:Humans; D008279:Magnetic Resonance Imaging; D009154:Mutation; D011877:Radionuclide Imaging