Introduction: Systemic amyloidosis is characterised by the extracellular deposition of amyloid fibrils
that misfold and aggregate causing disease when accumulation is sufficient to disrupt
the structure and integrity of affected organs. Cardiac involvement causes a restrictive
cardiomyopathy and determines prognosis. /
Aims: My aims were 1) To assess the echocardiographic phenotype of patients with
transthyretin (ATTR) cardiomyopathy and evaluate determinants of prognosis at
baseline 2) To describe the echocardiographic progression in patients with ATTR
cardiomyopathy over serial assessment 3) To assess the role of cardiac magnetic
resonance (CMR)-derived extracellular volume (ECV) mapping to detect and
estimate extra-cardiac amyloid load against Serum Amyloid P (SAP) scintigraphy
4) To assess the presence and mechanisms of myocardial ischaemia using stress
perfusion CMR. /
Results and Conclusions: Results demonstrate that 1) At baseline echocardiographic assessment in ATTR
cardiomyopathy, stroke volume index, right atrial area index, longitudinal strain, E/e’
and severe aortic stenosis were independently associated with mortality. Compared
to other genotypes, patients with V122I-associated ATTR cardiomyopathy had the
most severe degree of dysfunction. 2) Worsening in the degree of mitral and
tricuspid regurgitation at 12 and-24 months was associated with worse prognosis by
echocardiography, and patients with V122-associated ATTR cardiomyopathy had
more rapid progression when compared to other genotypes. 3) CMR derived ECV
mapping shows high diagnostic performance to detect splenic and hepatic amyloid
deposits with good correlation between ECV and amyloid load assessed by SAP
scintigraphy. 4) Myocardial blood flow assessed by stress perfusion CMR is severely
reduced in patients with cardiac amyloidosis and histological analysis of
endomyocardial tissue shows evidence of hypoxia, vascular infiltration and capillary
rarefaction. In conclusion, these results demonstrate that imaging in cardiac
amyloidosis has an important role in optimising diagnosis, tracking individual
changes over time and characterising amyloid organ involvement
