Cardiac amyloidosis phenotype associated with a Glu89Lys transthyretin mutation

• Published in: Canadian journal of cardiology Vol. 33; no. 6; pp. 830.e5 - 830.e7
• Main Authors: Bourque, Pierre R., MD, McCurdy, Arleigh R., MD, Mielniczuk, Lisa M., MD, Dennie, Carole, MD, Veinot, John P., MD, Warman Chardon, Jodi, MD
• Format: Journal Article
• Language: English
• Published: England Elsevier Inc 01.06.2017
• Subjects: Amyloidosis - diagnosis; Amyloidosis - genetics; Biopsy; Cardiomyopathies - diagnosis; Cardiomyopathies - genetics; Cardiovascular; DNA - genetics; DNA Mutational Analysis; Echocardiography; Humans; Magnetic Resonance Imaging, Cine; Male; Middle Aged; Mutation; Myocardium - pathology; Phenotype; Prealbumin - genetics
• ISSN: 0828-282X; 1916-7075
• DOI: 10.1016/j.cjca.2017.01.023

Abstract We report on a 45 year-old man with rapidly progressive cardiac amyloidosis, requiring heart transplantation within two years of symptomatic onset. Hematologic testing and initial tissue biopsies 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, due to a Glu89Lys mutation. Whereas a predominantly neuropathic phenotype was previously 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.