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. 2021 Aug;94(Suppl No 1):S11-S14.
doi: 10.15386/mpr-2219. Epub 2021 Aug 10.

Transthyretin cardiac amyloidosis

Raluca Tomoaia  1 , Ruxandra Beyer  2 , Simona Manole  1   2 , Alina Chirilă  2 , Alexandra Dădârlat-Pop  1   2 , Ioan Alexandru Minciună  3 , Dana Pop  1   3
Affiliations

Transthyretin cardiac amyloidosis

Raluca Tomoaia et al. Med Pharm Rep. 2021 Aug.

Abstract

Transthyretin amyloid cardiomyopathy (ATTR-CM) may be an under recognized cause of heart failure (HF). TTR amyloidosis can be inherited, caused by variants in the TTR gene (ATTRv) or by deposition of wild-type TTR protein (ATTRwt), leading to high mortality if untreated. We report the case of a patient with hereditary TTR amyloidosis and mixed phenotype (both cardiac and neurological involvement). We highlight the importance of multimodal imaging in the evaluation of these patients, as early diagnosis and treatment might lead to better outcome.

Keywords: TTR amyloidosis; multimodality imaging; transthyretin.

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Figures

Figure 1
Figure 1
Transthoracic echocardiography showing increased left ventricular wall thickness (A) and the typical apical sparing (B).
Figure 2
Figure 2
Cardiac magnetic resonance imaging showing LGE with subendocardial (yellow arrows) and transmural distribution (red arrows).
Figure 3
Figure 3
Bone scintigraphy showing cardiac uptake (corresponding Perugini score of 3). Further neurology investigations diagnosed peripheral autonomic neuropathy.
Figure 4
Figure 4
Follow-up cardiac magnetic resonance imaging showing LGE with subendocardial (yellow arrows) and transmural distribution (red arrows). The LGE distribution at 1-year was similar to the initial investigation.
See this image and copyright information in PMC

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