title: Amyloid in endomyocardial biopsies.
abstract: The prognosis of cardiac amyloidosis depends on the nature and origin of the amyloid protein deposited. However, little is known about the prevalence and origin of amyloid in heart muscle biopsies. We therefore examined retrospectively the distribution and origin of amyloid in a consecutive series of endomyocardial biopsies. Endomyocardial biopsies with verified presence of amyloid from 101 patients were included. Amyloid was classified immunohistochemically in each of them. Our collective comprised 63 men and 38 women, with a mean age of 66 years (range 37-85 years). Cardiac amyloidosis was the most common of the AL (54 patients) or ATTR type (42 patients). In five individuals, amyloid remained unclassified. AL amyloidosis was subdivided into ALlambda (45 patients) and ALkappa amyloid (nine patients). AA amyloid was not found in any individual. The amount of amyloid was higher in AL than in ATTR amyloidosis. Genomic DNA was extracted and examined by DNA sequencing in 19 patients with ATTR amyloidosis. Five (26%) individuals carried TTR mutations (p.Val20Ile, p.Val30Met (twice), p.Asp39Val and p.Glu54Asp) and were classified as suffering from hereditary ATTR amyloidosis. Amyloid in endomyocardial biopsies is most commonly of immunoglobulin light chain origin, followed by non-hereditary and hereditary-type ATTR amyloid.
authors.affiliation: Department of Pathology, Charité University Hospital, Berlin, Germany.
authors.forename: Barbara
authors.initials: B
authors.lastname: Kieninger
authors.forename: Magdalena
authors.initials: M
authors.lastname: Eriksson
authors.forename: Reinhard
authors.initials: R
authors.lastname: Kandolf
authors.forename: Philipp A
authors.initials: PA
authors.lastname: Schnabel
authors.forename: Stefan
authors.initials: S
authors.lastname: Schönland
authors.forename: Arnt V
authors.initials: AV
authors.lastname: Kristen
authors.forename: Ute
authors.initials: U
authors.lastname: Hegenbart
authors.forename: Peter
authors.initials: P
authors.lastname: Lohse
authors.forename: Christoph
authors.initials: C
authors.lastname: Röcken
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000682:Amyloid / Q000235:genetics / Q000378:metabolism*; D000686:Amyloidosis / Q000235:genetics / Q000378:metabolism*; D001706:Biopsy; D005260:Female; D006801:Humans; D007147:Immunoglobulin Light Chains / Q000378:metabolism; D007145:Immunoglobulin kappa-Chains / Q000378:metabolism; D008297:Male; D008875:Middle Aged; D009206:Myocardium / Q000378:metabolism / Q000473:pathology; D011228:Prealbumin / Q000235:genetics; D000685:Serum Amyloid A Protein / Q000378:metabolism
chemical_list: D000682:Amyloid; D007147:Immunoglobulin Light Chains; D007145:Immunoglobulin kappa-Chains; D011228:Prealbumin; D000685:Serum Amyloid A Protein