How to diagnose cardiac amyloidosis early: impact of ECG, tissue Doppler echocardiography, and myocardial biopsy

Abstract

Aims. To detect cardiac amyloidosis (CA) earlier, it is inevitable to improve diagnostic strategies.Methods and results. The impact of ECG, echocardiography including tissue Doppler imaging (TDI) and strain, and myocardial biopsies was evaluated in 30 patients (63% (n = 19) men, mean age 66 ± 8 years, NYHA 3.0 ± 0.5, 73% with prior myocardial decompensation), in whom we proved CA. Amyloid was confirmed by apple-green birefringence under polarised light, and the causing protein by immunohistochemical examinations. Genetic analyses excluded familial CA. All patients (AL-lambda (n = 22), AL-kappa (n = 3), senile amyloidosis (n = 5)) had echocardiographic signs of restrictive cardiomyopathy (RCM), typical TDI and strain parameters (E'septal; E′ lateral < 8 cm/s; E/E′ > 8; S' ≤9 cm/s; global longitudinal strain (GLS) −7.9 ± 3.8%). Pericardial effusions were present in 63% of patients. ECGs were suspicious in many patients: 19 (63%) had low-voltage, 23 (77%) reduced R waves in V1–V4, and 57% both. Abnormalities, retrospectively had been present for 0.5–4 years. Twenty (67%) patients died 232 ± 268 [2–1020] days after CA was diagnosed, but 502 ± 333 [30–1440] days after the first symptom.Conclusion. Accurate ECG evaluations, careful echocardiographic search for RCM, reduced strain/strain rates, and general indications to myocardial biopsies with correct analyses are needed to diagnose CA.