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Table 2 Cardiac characteristics of Glu54Gln-mutated ATTR

From: Clinical characteristics in patients with hereditary amyloidosis with Glu54Gln transthyretin identified in the Romanian population

Cardiac characteristicsGlu54Gln ATTR (7 patients)
Age, years45.9
Sex, % male28.5%
NT-proBNP (pg/ml), mean [range]2815.6 [34.5–7140]
IVS thickness, mm, mean [range]16 [13–21]
PW thickness, mm, mean [range]15 [12–17]
RV free wall thickness, mm, mean [range]7 [5–8]
S′, cm/s, mean [range]5.4 [4–7]
E/A, mean [range]2.3 [0.9–4.2]
E/E’, mean [range]19 [10–26]
TAPSE, mean [range]19 [13–26]
GLS, %, mean [range]−13 [−7.7, −18.5]
Atrial fibrillation, n, %2 (15%)
AV block, n, %5 (38%)
RBBB, n, %4 (31%)
LBBB, n, %1 (8%)
LVEF %, mean [range]49 [30–60]
Pericardial effusion, n, %2 (15%)
  1. A late phase mitral wave velocity, AV block atrioventricular block, E early mitral wave velocity, E’ early diastolic mitral annulus velocity, GLS global longitudinal strain, IVS interventricular septum, LBBB left bundle branch block, LVEF left ventricular ejection fraction, NT-proBNP N-terminal-pro hormone B-type natriuretic peptide, PW posterior wall, RV thickness right ventricular thickness, RBBB right bundle branch block, S′ mitral annulus systolic myocardial velocity, TAPSE Tricuspid annular plane systolic excursion