Skip to content


  • Poster presentation
  • Open Access

Usefulness of combining electrocardiogram and echocardiography findings and brain natriuretic peptide in early detection of cardiac amyloidosis in subjects with transthyretin gene mutation

  • 1,
  • 2,
  • 3,
  • 1,
  • 3,
  • 1,
  • 2 and
  • 3
Orphanet Journal of Rare Diseases201510 (Suppl 1) :P34

  • Published:


  • Amyloidosis
  • Brain Natriuretic Peptide
  • Global Longitudinal Strain
  • Cardiac Amyloidosis
  • Septal Thickness

Early non-invasive identification of cardiac amyloidosis (CA) is of growing clinical importance. Low voltage on electrocardiogram (ECG), increased left ventricular (LV) septal thickness (ST) and global longitudinal strain (GLS) on echocardiography, and elevated brain natriuretic peptides (BNP) are used as surrogates of CA. Thirty-five patients (50 ± 14 years, 22 females) underwent an ECG to analyze low-voltage QRS (<15 mV) pathological Q-waves, poor R-wave progression, ST-T abnormalities - and left bundle branch block. An ECG was considered abnormal if at least one ECG alteration was present. Echocardiography was used to analyze LVST, E/E’ and GLS. All participants also had BNP blood testing. 99mTc-DPD scintigraphy assumed as a reference method showed CA in 18 patients (51%, CA group) and no accumulation in 17 patients (no CA group). In descending order of accuracy, LVST >14 mm, E/E’ >6.6, GLS <14.1, BNP >129 pg/ml, and an overall abnormal ECG showed good capability to distinguish patients with and without CA. All these parameters were predictors of CA in univariate analysis while low-voltage QRS showed the worst performance. LVST >14 mm (p = 0.002) was the best independent predictor of CA, achieving sensitivity of 78% and accuracy of 89%. However, a LVST >14 mm (p = 0.005) plus an abnormal ECG (p = 0.03) show together a higher sensitivity, equal to 89%, in identifying CA. An integrated evaluation of ECG and echocardiography is a sensitive and low-cost technical approach to identify CA in patients with transthyretin gene mutation.

Authors’ Affiliations

University of Messina, Clinical and experimental medicine department, 98100 Messina, Italy
Department of Biomedical Sciences and of Morphologic and Functional Images, University of Messina, 98100 Messina, Italy
Department of Neurosciences, University of Messina, 98100 Messina, Italy


© Di Bella et al. 2015

This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. The Creative Commons Public Domain Dedication waiver ( applies to the data made available in this article, unless otherwise stated.