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Case Reports
. 2023 Aug 29:10:1164916.
doi: 10.3389/fcvm.2023.1164916. eCollection 2023.

Case Report: A rare homozygous patient affected by TTR systemic amyloidosis with a prominent heart involvement

Emanuele Micaglio  1 , Gloria Santangelo  2 , Silvia Moscardelli  2 , Daniela Rusconi  3 , Francesco Musca  4 , Alessandro Verde  4 , Laura Campiglio  5 , Francesca Bursi  5 , Marco Guazzi  5
Affiliations
Case Reports

Case Report: A rare homozygous patient affected by TTR systemic amyloidosis with a prominent heart involvement

Emanuele Micaglio et al. Front Cardiovasc Med. .

Abstract

Hereditary transthyretin amyloidosis is a severe, adult-onset autosomal dominant inherited systemic disease predominantly affecting the peripheral and autonomic nervous system, heart, kidney, and the eyes. We present a case of a Caucasian 65-year-old man with cardiac amyloidosis and the homozygous mutation Val142Ile (classically, Val122Ile) in the transthyretin gene. We provide a genotype-phenotype correlation regarding the genetic status of both heterozygous and homozygous individuals and their clinical conditions at the time of genetic testing.

Keywords: Val142Ile; atrial fibrillation; hereditary transthyretin amyloidosis cardiomyopathy; homozygous variant; stroke.

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Conflict of interest statement

The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.

Figures

Figure 1
Figure 1
(A) 12-lead electrocardiogram: sinus rhythm, heart rate 75/min, normal PR, normal QRS voltages, pseudo-Q-waves in inferior leads and aspecific T-wave abnormalities. (B) Four-chamber cine cardiovascular magnetic resonance: increased wall thickness; right ventricle normal in size and function. (C) Total body scintigraphy with Technetium-99m oxidronate: radiotracer deposit in the LV greater than bone intensity.
Figure 2
Figure 2
(A) Pulsed mitral wave Doppler: grade II diastolic dysfunction with elevation E/A ratio (1.93); (B) lateral tissue Doppler imaging: low mitral annulus e′ velocities (8 cm/s); (C) septal tissue Doppler measurement: low mitral annulus e′ velocities (6 cm/s); (D) GLS bull's eye diagram: typical apical sparing of amyloidosis. GLS, global longitudinal strain.
Figure 3
Figure 3
Electropherogram. Homozygous mutation in the TTR gene.
Figure 4
Figure 4
Proband's family tree. The arrow shows the proband who harbors mutation and clinical phenotype.
See this image and copyright information in PMC

References

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