title: Direct tissue evaluation via immunofluorescence: in the diagnosis of hereditary transthyretin cardiac amyloidosis.
abstract: Multiple precursor proteins have been shown to cause cardiac amyloidosis. The most common forms are due either to immunoglobulin light chains or to transthyretin proteins (either wild-type or mutant forms). Correct subclassification of the amyloid is paramount because treatment differs in accordance with the type of amyloidosis. Indirect diagnostic methods, including serologic analysis, can lead to misdiagnosis. Definitive diagnosis often requires analysis of amyloid in the tissue. We present a case of a woman who was diagnosed with hereditary transthyretin cardiac amyloidosis by means of immunofluorescence and genetic analysis. This case highlights the importance-in the diagnostic algorithm of cardiac amyloidosis-of direct evaluation of the tissue with immunofluorescence and of genetic testing.
authors.affiliation: Department of Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts 02114, USA. mfradley@partners.org
authors.forename: Michael G
authors.initials: MG
authors.lastname: Fradley
authors.forename: Joseph V
authors.initials: JV
authors.lastname: Thakuria
authors.forename: A Bernard
authors.initials: AB
authors.lastname: Collins
authors.forename: Stephanie A
authors.initials: SA
authors.lastname: Moore
authors.forename: James R
authors.initials: JR
authors.lastname: Stone
mesh_terms: D000368:Aged; D000682:Amyloid / Q000737:chemistry*; D028226:Amyloidosis, Familial / Q000175:diagnosis* / Q000235:genetics / Q000378:metabolism / Q000628:therapy; D001706:Biopsy; D009202:Cardiomyopathies / Q000175:diagnosis* / Q000235:genetics / Q000378:metabolism / Q000628:therapy; D004252:DNA Mutational Analysis; D004452:Echocardiography; D005260:Female; D005455:Fluorescent Antibody Technique; D006801:Humans; D008279:Magnetic Resonance Imaging; D009154:Mutation; D009206:Myocardium / Q000737:chemistry* / Q000473:pathology; D011228:Prealbumin / Q000032:analysis / Q000235:genetics; D011237:Predictive Value of Tests
chemical_list: D000682:Amyloid; D011228:Prealbumin