title: Cardiac Amyloidosis Phenotype Associated With a Glu89Lys Transthyretin Mutation.
abstract: We report a 45-year-old man with rapidly progressive cardiac amyloidosis, who required heart transplantation within 2 years of symptomatic onset. Hematologic testing and initial tissue biopsy results confirmed amyloid infiltration but were inconclusive for the amyloidogenic protein source. Mass spectroscopy and transthyretin (TTR) sequencing were required to reach a diagnosis of TTR amyloidosis resulting from a Glu89Lys mutation. Although a predominantly neuropathic phenotype has previously been described with this mutation, the present kinship documents a primarily cardiac presentation. This case report highlights the diagnostic challenge of TTR amyloidosis and the marked variability of the genotype-phenotype correlation.
authors.affiliation: Department of Medicine, University of Ottawa, Ottawa, Ontario, Canada; Ottawa Hospital Research Institute, Ottawa, Ontario, Canada. Electronic address: pbourque@toh.ca.
authors.forename: Pierre R
authors.initials: PR
authors.lastname: Bourque
authors.affiliation: Department of Medicine, University of Ottawa, Ottawa, Ontario, Canada.
authors.forename: Arleigh R
authors.initials: AR
authors.lastname: McCurdy
authors.affiliation: University of Ottawa Heart Institute, Ottawa, Ontario, Canada.
authors.forename: Lisa M
authors.initials: LM
authors.lastname: Mielniczuk
authors.affiliation: Department of Diagnostic Imaging, University of Ottawa, Ottawa, Ontario, Canada.
authors.forename: Carole
authors.initials: C
authors.lastname: Dennie
authors.affiliation: Department of Pathology and Laboratory Medicine, The Ottawa Hospital, Ottawa, Ontario, Canada.
authors.forename: John P
authors.initials: JP
authors.lastname: Veinot
authors.affiliation: Department of Medicine, University of Ottawa, Ottawa, Ontario, Canada; Ottawa Hospital Research Institute, Ottawa, Ontario, Canada.
authors.forename: Jodi
authors.initials: J
authors.lastname: Warman Chardon
mesh_terms: D000686:Amyloidosis / Q000175:diagnosis / Q000235:genetics*; D001706:Biopsy; D009202:Cardiomyopathies / Q000175:diagnosis / Q000235:genetics*; D004247:DNA / Q000235:genetics*; D004252:DNA Mutational Analysis; D004452:Echocardiography; D006801:Humans; D019028:Magnetic Resonance Imaging, Cine; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009206:Myocardium / Q000473:pathology; D010641:Phenotype; D011228:Prealbumin / Q000235:genetics*
chemical_list: D011228:Prealbumin; D004247:DNA