Volume 10 Supplement 1

First European Congress on Hereditary ATTR amyloidosis

Open Access

Coexistence of degenerative aortic stenosis and wild type transthyretin-related cardiac amyloidosis: a potentially dangerous association that can be non-invasively identified

  • Simone Longhi1,
  • Agnese Milandri1,
  • Christian Gagliardi1,
  • Massimiliano Lorenzini1,
  • Francesco Saia1,
  • Ornella Leone2,
  • Pier Luigi Guidalotti3 and
  • Claudio Rapezzi1
Orphanet Journal of Rare Diseases201510(Suppl 1):P45

https://doi.org/10.1186/1750-1172-10-S1-P45

Published: 2 November 2015

Background

Degenerative aortic stenosis (AS) and wild type transthyretin (TTR)-related cardiac amyloidosis (wt-ATTR) share a common demographic and clinical profile. It has been recently suggested that the coexistence of wt-ATTR could negatively influence the outcome of elderly patients with aortic stenosis undergoing transcatheter aortic valve replacement (TAVR). TTR-related cardiac amyloidosis can be accurately identified by technetium-99m-3, 3-diphosphono-1, 2 propanodicarboxylic acid (99mTc-DPD) scintigraphy. We decided to investigate the coexistence of cardiac amyloidosis in elderly patients with aortic stenosis referred for aortic valve replacement (TAVR or surgery).

Methods

Since October 2014 we prospectively evaluated with 99mTc-DPD scintigraphy all patients diagnosed with degenerative AS and one or more of the following: paradoxical low flow-low gradient severe AS, QRS voltage-left ventricular (LV) wall thickness mismatch, echocardiographic findings suggestive of myocardial infiltrative disease (increased thickness of atrio-ventricular valves or interatrial septum or right ventricular free wall, pericardial effusion, granular sparkling of ventricular myocardium). Cases with intense myocardial tracer uptake underwent endomyocardial biopsy (EMB).

Results

Five out of 42 patients underwent 99mTc-DPD scintigraphy that showed strong myocardial uptake in all. EMB demonstrated TTR-related amyloid infiltration in all cases. Genetic analysis excluded TTR gene mutations; so wt-ATTR was diagnosed. Median age was 88 (range 86-91), 3/5 were males. Two had a history of carpal tunnel syndrome and all were symptomatic for exertional dyspnoea (NYHA class III-IV). At echocardiography mean LV wall thickness was 18±2 mm, LV ejection fraction was 54±10% (38%-64%). Functional aortic valve area was between 0.4 and 0.9 cm2;one case had a low flow-low gradient and reduced LV ejection fraction (38%); maximum aortic gradient in the other 4 cases was 59±30 mmHg. Atrio-ventricular valve thickening was present in all, and mild pericardial effusion was present in 3 cases. Tissue Doppler S wave was reduced in all cases. QRS voltage was normal in one and increased in 4 patients.

Conclusion

Coexistence of degenerative AS and wt-ATTR cardiac amyloidosis (a potentially dangerous condition in patients undergoing AVR or TAVR) can be suspected by clinical and echocardiographic elements and effectively diagnosed by 99mTc-DPD scintigraphy.

Authors’ Affiliations

(1)
Department of Experimental, Diagnostic and Specialty Medicine, DIMES, Alma Mater Studiorum, University of Bologna, Cardiology
(2)
Department of Pathology, Sant'Orsola-Malpighi Hospital, Pathology
(3)
Department of Experimental, Diagnostic and Specialty Medicine, DIMES, Alma Mater Studiorum, University of Bologna, Nuclear Medicine Unit

Copyright

© Longhi 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 (http://creativecommons.org/licenses/by/4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.

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