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• W4280554861 abstract "Abstract Background The APOA1 gene encodes the precursor of apolipoprotein AI (ApoAI), whose mature form is the major component of high–density lipoproteins. APOA1 mutations may cause a form of hereditary amyloidosis (AApoAI). Only very small case series of patients with AApoAI are available. Methods We examined 189 consecutive subjects with the heterozygous APOA1 Leu75Pro mutation referred for cardiac screening over a 10–year timespan at the Spedali Civili of Brescia (Italy). Results Subjects (men 54%, median age 55 years, renal disease 39%, liver disease 31%) had a median left ventricular ejection fraction (LVEF) of 60% (55–66), did not display a prominent diastolic dysfunction (E/e’ ratio 7 [6–10]) nor LV hypertrophy (LV mass index [LVMI] 92 g/m2 [74–111]). LV global longitudinal strain (GLS) (–19% [–21 to –17]), and mass to strain ratio (MSR) (10.0 [6.8–12.1]) were within normal limits. Age correlated with several echocardiographic parameters, including interventricular septal (IVS) thickness (r = 0.484), LVMI (r = 0.459), E/e’ (r = 0.501), and right ventricular free wall thickness (r = 0.459) (all p &lt; 0.001). Some individuals displayed echocardiographic red flags of cardiac amyloidosis (CA; “granular sparkling” of the IVS, 19%; pericardial effusion, 11%; apical sparing, 10%; thickened atrioventricular valves, 8%). Thirteen out of 96 (14%) fulfilled non–invasive criteria for CA. Twenty–nine subjects died over 5.8 years (4.1–8.0), with 10 deaths for cardiovascular causes; 14 out of 182 (8%) were hospitalized because of HF, and 17 (9%) died for cardiovascular causes or were hospitalized for HF. Individuals with suspected CA had a much higher risk of all–cause death (p = 0.009), cardiovascular death (p &lt; 0.001), cardiovascular death or HF hospitalization (p &lt; 0.001), and HF hospitalization alone (p &lt; 0.001). Furthermore, subjects with either renal or liver involvement had a higher risk of events and a worse outcome. Conclusions In subjects with an amyloidogenic APOA1 mutation, transthoracic echocardiography showed only minor signs of cardiac disease. The correlations between age and echocardiographic findings suggested a progressive increase in wall thickness, a decline in systolic and diastolic function, and a greater uncoupling between LV mass and contractility over time. Subjects with both renal and liver disease displayed the most evident signs of biventricular involvement and had a worse outcome." @default.
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• W4280554861 date "2022-05-01" @default.
• W4280554861 modified "2023-10-15" @default.
• W4280554861 title "P286 ECHOCARDIOGRAPHIC FINDINGS IN SUBJECTS WITH AN AMYLOIDOGENIC APOLIPOPROTEIN A1 MUTATION" @default.
• W4280554861 doi "https://doi.org/10.1093/eurheartj/suac012.276" @default.
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