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Ile68Leu ATTRm is a cause of familial amyloidotic cardiomyopathy endemic in central-northern Italy and presents as hypertrophic/restrictive cardiomyopathy quite similar to ATTRwt. Male preponderance is present in affected patients but not in unaffected mutation carriers. Age-adjusted survival is similar to ATTRwt.

Tenosynovial complications identify TTR cardiac amyloidosis among patients with hypertrophic cardiomyopathy phenotype (Original).

Background. 99mTc-HMDP scintigraphy has proved its efficacy in non-invasive diagnosis of cardiac amyloidosis (CA) and is currently interpreted according to the Perugini qualitative assessment. Several semi-quantitative indices have been proposed to overcome inherent possible limitations of visual grading. Our aim was to comparatively evaluate six different indices and their diagnostic performance. Methods. We retrospectively reviewed scintigraphy of 76 patients (53 ATTR, 12 AL, 11 LVH) who underwent diagnostic evaluation at our centre. ROC-curve analysis was performed to identify optimal cutoff and relative diagnostic accuracy of six different indices (of which one was proposed for the first time), both in identifying CA patients and in discriminating patients according to their Perugini score. Results. Heart/Whole-body ratios proved to be the most accurate (100%) in identifying CA patients. Heart/Pelvis ratio (with soft tissue background correction) offered acceptable accuracy (98%), with the largest area under the curve (AUC) (0.98) in discriminating patients with Perugini ‡ 2. Heart/Contralateral Lung ratio confirmed to be exposed to confounding background noise in case of simultaneous lung uptake. Heart/Skull ratio had the worst performance, with six false-negative patients in ATTR identification. Conclusion. Heart/Whole-body ratios may be robust and effective semi-quantitative indices for the evaluation of CA by means of scintigraphy (J Nucl Cardiol 2019

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