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.

Magnetic Resonance Imaging of the Myocardium, Coronary Arteries, and Anomalous Origin of Coronary Arteries

“…Endomyocardial biopsy is considered the gold standard for the diagnosis of cardiac amyloidosis [ 202 ]. A series of 33 consecutive patients who had congestive heart failure with a restrictive fi lling pattern underwent endomyocardial biopsy and a comprehensive CMRI examination [ 199 ].…”

Vascular, Cardiac Valve, and Metabolic Diseases

“…The prognosis of cardiac amyloidosis depends on the nature and origin of the amyloid protein deposited (Kieninger et al 2010). Patients with cardiac amyloidosis can show persistent elevated troponin levels.…”

Hereditäre kardiale Amyloidosen mit Mutationen des Transthyretin

“…Derzeit sind über 90 Mutationen bekannt [5]. Die Art der Mutation entscheidet u. a. über den Verlauf, die vorwiegend betroffenen Organe sowie den Altersgipfel der Erkrankung.…”

“…Sie waren vorwiegend in der Niere nachzuweisen, obgleich aus anderen autoptischen Studien bekannt ist, dass es zu einem Befall von Leber und Herz kommen kann. Im Gegensatz zur AL-Amyloidose ließ sich die ATTR-Amyloidose jedoch nur sehr selten in Leber (2,0%) und Nieren (0,9%) nachweisen [5,6].…”

“…Die Val20Ile-Variante führte in den wenigen bisher beschriebenen Fällen immer zu einem kardialen Befall [5,20,21] …”