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DPD scintigraphy for cardiac amyloid: an overview
Author(s): Dr Paul Scully, Dr Leon Menezes
Hospital: Barts Heart Centre, St Bartholomew's Hospital
Reference: RAD Magazine, 46, 544, 17-18
Excerpt: Amyloidosis is a multisystem disease characterised by the extracellular deposition of abnormally folded protein fibrils. Twenty-seven different types of protein can form such amyloid fibrils in humans, however, two commonly involve the heart: transthyretin (ATTR) and immunoglobulin light chains (AL). ATTR can be associated either with a mutation in the TTR gene (hereditary ATTR) or not (wild-type or wtATTR). There are over 130 documented TTR gene mutations, but the commonest to involve the heart are Val122Ile (present in 4% African-Americans), Val30Met and Thr60Ala.1,3 These patients tend to have varying degrees of peripheral/autonomic neuropathy and cardiac involvement, by comparison cardiac involvement is almost universal with wtATTR.1,3 It is this cardiac involvement that is the leading course of mortality in these patients. The mean age of presentation for wtATTR is mid-70s, reportedly with a strong male predominance – although interestingly this does not seem to hold quite so true in the heart failure with preserved ejection fraction (HFpEF) or aortic stenosis (AS) populations.