Amyloidosis is a systemic infiltrative disease, in which unstable proteins misfold, form aggregates and amyloid fibrils which can deposit in various organs: heart, kidneys, liver, gastrointestinal tract, nervous system structures, lungs, or soft tissue. Cardiac amyloidosis (CA) diagnosis requires awareness, high level of clinical suspicion and expertise in integrating clinical, electrocardiographic, and multimodality imaging data. The overall scenario is complex and no single test emerges over the others, but different techniques are useful at various stages of the diagnostic workup. After a clinical suspicion of CA is raised by various non-imaging red-flags, eligible patients should undergo complete echocardiography and multiparametric cardiovascular magnetic resonance imaging. Even though the clinical suspicion of CA is confirmed by cardiac imaging, the accurate differentiation between the two most frequent and treatable amyloid types, i.e. light chain (AL) and transthyretin (ATTR) requires further work-up including phosphate scintigraphy. This article reviews the latest and essential data on multimodality imaging of patients with suspected or confirmed CA in a useful and practical manner for the general and imaging cardiologists.
Background: In Romania, 23 patients have been diagnosed with hereditary transthyretin amyloidosis (ATTRh), 18 of whom have the Glu54Gln mutation. This retrospective cohort included all patients with Glu54Gln-mutated ATTRh who were diagnosed in Romania from 2005 to 2018. Results: Of 18 patients, 10 were symptomatic, five were asymptomatic carriers and three died during the study. All originated from NorthEast Romania. Median age at symptom onset was 45 years; median age at death was 51 years. All patients had cardiac involvement, including changes in biomarkers (mean N-terminal-pro B-type natriuretic peptide: 2815.6 pg/ml), electrocardiography (15% atrial fibrillation, 38% atrioventricular block, 31% right bundle block), and echocardiography (mean interventricular septum: 16 mm, mean left ventricular ejection fraction: 49%). Scintigraphy showed myocardial radiotracer uptake in all patients. In addition, 92% of patients had polyneuropathy at diagnosis and 53% had carpal tunnel syndrome; 69% exhibited orthostatic hypotension and 31% suffered from diarrhea. No renal or liver involvement was observed. Conclusions: This is the largest Glu54Gln-mutated ATTRh cohort diagnosed to date, and to our knowledge the first describing this variant worldwide. Clinical features of this variant are early onset, neurological and cardiac involvement, aggressive disease progression and short survival. Early diagnosis and therapeutic intervention have potential to improve prognosis in ATTRh.
Cardiac amyloidosis (CA) is a restrictive cardiomyopathy characterized by deposition of amyloid in the myocardium and recent studies revealed it is more frequently seen than we thought. Advances in diagnosis and treatment have been made over the last few years that make it desirable to diagnose CA without delay, and that may require extra education. An online survey was conducted among cardiologists from Romania, representing the first assessment of the knowledge of CA among them, with 195 cardiologists answering the questionnaire. There was a wide variation in their knowledge regarding CA. Our participants had limited experience with CA and reported a significant delay between first cardiac symptoms and diagnosis. We address the gaps in knowledge that were identified as educational opportunities in the main identified areas: prevalence and treatment of wild type transthyretin amyloidosis (ATTRwt), prevalence of variant transthyretin amyloidosis (ATTRv) in Romania, diagnosis of CA, the delay in CA diagnosis and available treatment options. Awareness among cardiologists is the most important challenge in diagnosing CA. Romanian cardiologists are partially aware of this topic, but there are still gaps in their knowledge. Educational programs can improve screening of patients with a high suspicion for this progressive condition the prognosis of which has been dramatically changed by the new treatment options.
Background Cardiac amyloidosis (CA) is described as one entity. However, several subtypes of amyloid can infiltrate the heart: light chain (AL) and tranthyretin (ATTR) are the most common. Purpose To characterize the specific findings of the CA subtypes as a tool to aid differential diagnosis between AL and ATTR CA. Material and methods: Consecutive patients with CA were evaluated by clinical examination, ECG, cardiac biomarkers and echocardiography with both conventional and myocardial deformation study of the left ventricle (LV), left atrium (LA) and right ventricle (RV). Amyloid subtype was described using light chain assessment for AL-CA and 99Tc-HMPD scintigraphy and TTR gene sequencing for ATTR-CA. Results 32 patients with CA were included, 13 with ATTR and 19 with AL. Patients in AL group were significantly older, with higher levels of cardiac biomarkers. At similar LV EF and wall thickness, they had lower GLS. LA function parameters were also lower in AL pts (table). Using ROC curves, the best predictors for AL diagnosis were NTproBNP (AUC 0.937) and Tn levels (AUC 0.958), as well as LV GLS and pericardial fluid presence (both AUC 0.750). Conclusions At similar LV wall thickness and ejection fraction, cardiac dysfunction appears to be more severe in AL pts, with lower global LV longitudinal strain, worse LA function, higher sPAP and NTproBNP. ATTR (13 pts) AL (19 pts) p Age (years) 50 ± 12 60 ± 8 0.01 NTproBNP (pg/mL) 3066 ± 3720 11755 ± 9114 0.02 hsTnI (ng/mL) 0.005 ± 0.008 0.147 ± 0.161 0.04 Pericardial fluid (%) 53% 100% 0.002 LVEDV (mL) 88 ± 25 75 ± 38 NS LVMi (g/m2) 166 ± 47 168 ± 41 NS LVEF (%) 50 ± 8 49 ± 16 NS LV GLS (%) -12.1 ± 3.8 -8.9 ± 4.5 0.04 Septal Basal/Apical LS 0.33 ± 0.17 0.25 ± 0.27 NS LAVi (mL/m2) 46 ± 21 45 ± 14 NS LAEF 4CV (%) 35 ± 21 24 ± 8 0.05 LA systolic strain (%) 17.4 ± 11.9 10.5 ± 5.0 0.02 RV free wall thickness (mm) 7.0 ± 1.5 7.6 ± 1.4 NS RV 6-segments strain (%) -15 ± 4 -10 ± 8 0.09 sPAP (mmHg) 36.6 ± 12.0 48.6 ± 17.2 0.04
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