Cardiac amyloidosis is a rare disease associated with severe morbidity and mortality. There are three main types of amyloidosis associated with cardiac involvement: light chain (AL), familial or senile (ATTR) and secondary amyloidosis (AA). Cardiac amyloidosis often results in heart failure with preserved left ventricular ejection fraction, may display echocardiographic features of restrictive cardiomyopathy associated with left ventricular hypertrophy or mimic hypertrophic obstructive cardiomyopathy. However, left ventricular systolic dysfunction and normal wall thickness can sometimes be encountered. Imaging studies (echocardiography, bone scintigraphy, cardiac magnetic resonance) and blood and urine analysis are usually the main tools for the diagnosis. Sometimes, a tissue biopsy may be necessary. Treatment, which is constantly improving, will be carried out on two fronts: treatment of the symptoms and complications that the disease already caused and prevention of additional amyloid deposits while managing the concomitant complications. The purpose of this article is to review the management of cardiac amyloidosis.

This study aimed to evaluate the modification of non-invasive myocardial work (MW) indices related to aortic stenosis (AS) stages of cardiac damage and their prognostic value. The echocardiographic and outcome data of 170 patients, with asymptomatic moderate-to-severe AS and left ventricular ejection fraction (LVEF) ≥ 50%, and 50 age- and sex-comparable healthy controls were analysed. Primary endpoints were the occurrence of all-cause and cardiovascular death. Increased values of the global work index (GWI), global constructive work (GCW), and global wasted work (GWW) were observed in AS patients compared to controls (GWI: 2528 ± 521 vs. 2005 ± 302 mmHg%, GCW: 2948 ± 598 vs. 2360 ± 353 mmHg%, p < 0.001; GWW: 139 ± 90 vs. 90 ± 49 mmHg%, p = 0.005), with no changes in the global work efficiency. When patients were stratified according to the stages of cardiac damage, the GWI showed lower values in Stage 3–4 as compared to Stage 0 and Stage 2 (p = 0.024). During a mean follow-up of 30 months, 27 patients died. In multivariable Cox-regression analysis, adjusted for confounders, GWI (HR: 0.998, CI: 0.997–1.000; p = 0.034) and GCW (HR:0.998, CI: 0.997–0.999; p = 0.003) were significantly associated with excess mortality. When used as categorical variables, a GWI ≤ 1951 mmHg% and a GCW ≤ 2475 mmHg% accurately predicted all-cause and cardiovascular death at 4-year follow-up. In conclusion, in asymptomatic patients with moderate-to-severe AS, reduced values of GWI and GCW are associated with increased mortality. Therefore, the evaluation of MW indices may allow for a better identification of asymptomatic patients with moderate to severe AS and preserved LVEF whom are at increased risk of worse prognosis during follow-up.

BACKGROUND: A formal prognostic staging system in wild-type transthyretin amyloid cardiomyopathy (ATTRwt-CM), based on echocardiographic imaging, is lacking. We evaluated the prognostic performance of global longitudinal strain (GLS) staging in a large cohort of patients with ATTRwt-CM, including under tafamidis treatment and relative to National Amyloidosis Center (NAC) biomarker staging. METHODS: A multicentric, international ATTRwt-CM patient cohort with baseline GLS (distribution quartiles), evaluated by echocardiography, was studied, related to all-cause mortality. RESULTS: The study comprised 816 patients with ATTRwt-CM, median age of 81.5 years, 83% males, and 72% tafamidis initiated. During a 2.2-year median follow-up, 29.7% of patients died. GLS worsened with increasing NAC disease stage (I: −14.3%, II: −11.6%, III: −11.4%; P <0.001). Median survival per baseline GLS quartile stage 1 (<−15.8%), 2 (−15.8 to −12.9%), 3 (−12.8 to −10.0%), and 4 (GLS >−10.0%) was not met, 6.7, 4.6, and 3.4 years, respectively ( P <0.001). The median GLS −12.8% cutoff predicted 1-year mortality with 74% sensitivity, 52% specificity (area under the curve, 0.73 [95% CI, 0.66–0.80]; P <0.001). GLS was the only independent echocardiographic and strong mortality predictor, independent of other predictors, including age, New York Heart Association class symptoms, NAC stage, and tafamidis treatment (hazard ratio, 1.08 [95% CI, 1.04–1.12]; P <0.001), also when restricted to 591 tafamidis-treated subjects (hazard ratio, 1.15 [95% CI, 1.08–1.22]; P <0.001). Baseline GLS −12.8% cutoff value provided further prognostic discriminative ability for mortality within each NAC disease stage stratum (all P <0.050). Likelihood ratio test indicated incremental prognostic value of GLS (staging) over baseline NAC staging ( P <0.001). CONCLUSIONS: GLS is a strong, independent mortality predictor in ATTRwt-CM, irrespective of tafamidis treatment, that may be an adjunct or complementary to biomarker staging.

Background/Objectives: Cardiac amyloidosis (CA) is a rare and severe multisystem disorder, associated with an average survival of approximately five years. Recently, Tafamidis has emerged as a promising treatment for transthyretin-related CA. This retrospective study aimed to assess disease progression through echocardiographic findings in patients with transthyretin-related CA, with a specific focus on evaluating the impact of Tafamidis in a cohort managed at our Cardiomyopathy Clinic. Methods: A total of 39 patients were included, of whom 28 received Tafamidis treatment, while 11 did not. Clinical, electrocardiographic, echocardiographic, biological, and other imaging data were collected at diagnosis. Comprehensive echocardiographic data were collected every six months over a two-year period (2021–2023). Results: At 1-year follow-up, the Tafamidis-treated cohort demonstrated stable global systolic and diastolic function. Left ventricular (LV) global longitudinal strain (GLS) and global work index (GWI) showed minimal change (GLS −12.9% (−15.6; −10.7) vs. −13.0% (−14.0; −10.7), p = 0.054; GWI 1113 mmHg/% (963; 1301) vs. 1208 mmHg/% (850; 1420), p = 0.054), and there was no significant increase in indexed LV mass (135.0 g/m² (118.0; 167.0) vs. 148.0 (128.0; 173.0), p = 0.25). Similarly, valvular heart disease severity remained unchanged. Longitudinal analysis using generalized linear mixed models further confirmed the stability of echocardiographic parameters over the 2-year follow-up period. Systolic function metrics, including LV ejection fraction (slope: −0.0098 ± 0.011, p = 0.38) and GLS (slope: 0.0036 ± 0.0041, p = 0.39) showed no significant decline. Diastolic function assessed through E/A ratio (slope: −0.0007 ± 0.0013, p = 0.59) and E/e’ (slope: −0.0042 ± 0.0073, p = 0.57) also remained stable. Indexed LV mass exhibited no significant progression (slope: 0.050 ± 0.061, p = 0.41). These findings were consistent across the various subgroups. Conclusions: Tafamidis appears to effectively stabilize transthyretin-related CA, limiting disease progression over the follow-up period.