Spectrum of cardiac amyloidosis in clinical practice: insights from a single centre
M Dankova, V Simovicova, E GoncalvesovaAbstract
Background
Cardiac amyloidosis (CA) is a frequently underdiagnosed cause of heart failure. Early identification of affected patients and close interdisciplinary collaboration are essential for accurate diagnosis, appropriate subtyping, and timely initiation of disease-specific therapy.
Methods
From January 2023 to December 2025, 78 consecutive patients with suspected cardiac amyloidosis were referred to a specialized outpatient clinic. Referrals originated predominantly from cardiology (53.8%) and neurology departments (29.4%), followed by internal medicine (3.8%), hematology (5.1%), and radiology (1.3%). All patients underwent a comprehensive diagnostic evaluation including echocardiography, cardiac magnetic resonance imaging, bone scintigraphy, laboratory assessment, genetic testing, and endomyocardial biopsy when clinically indicated.
Results
Cardiac amyloidosis was confirmed in 44 of 78 patients (56.4%). Wild-type transthyretin amyloidosis (ATTRwt) was the most prevalent subtype (n=26), followed by light-chain amyloidosis (AL, n=12) and hereditary transthyretin amyloidosis (ATTRh, n=6). The median age was 73 years (IQR 66,2–80,5), and 70% of patients were male. All ATTRh patients presented with concomitant polyneuropathy. Compared with ATTRwt, AL patients were younger (median 67.5 vs. 77 years; p=0.007) and more frequently exhibited renal impairment (60% vs. 71%; p=0.01). Biomarker analysis revealed significantly higher NT-proBNP and troponin T levels in AL amyloidosis (p=0.05 and p=0.02, respectively). Echocardiography demonstrated preserved left ventricular ejection fraction across subtypes (median EF: AL 50%, ATTRwt 55%, ATTRh 60%) and increased interventricular septal thickness (median IVSd: 18 mm in AL and ATTRwt, 16 mm in ATTRh). Cardiac magnetic resonance imaging was most frequently utilized in AL patients (80%), whereas bone scintigraphy confirmed the diagnosis in all ATTRwt and ATTRh cases. Endomyocardial biopsy established the diagnosis in 8 patients (5 AL, 3 ATTRwt). Standard heart failure therapy included diuretics (84%), mineralocorticoid receptor antagonists (up to 70%), and SGLT2 inhibitors, particularly in ATTRwt patients (62%). Disease-specific treatment comprised tafamidis in 88% of ATTRwt patients and patisiran in 33% of ATTRh patients. Overall mortality during the study period was 10%.
Conclusion
This single-centre experience demonstrates the growing recognition of cardiac amyloidosis and emphasizes the necessity of a multidisciplinary diagnostic strategy. ATTRwt amyloidosis was the predominant subtype, characterized by distinct clinical, echocardiographic, and therapeutic features. Accurate and timely subtyping is crucial for guiding tailored therapy and improving patient outcomes.