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Case Reports
. 2023 Oct 31:10:1228410.
doi: 10.3389/fcvm.2023.1228410. eCollection 2023.

Case Report: Transthyretin Glu54Leu-a rare mutation with predominant cardiac phenotype

Mariana Gospodinova  1 , Sashka Zhelyazkova  2 , Teodora Chamova  2 , Ognyan Asenov  2 , Zornitsa Pavlova  3 , Tihomir Todorov  3 , Dilyana Mikova  4 , Yordan Palashev  4   5 , Ivan Gruev  6 , Atanas Kundurdjiev  1   7 , Albena Todorova  3   8 , Ivailo Tournev  2   9
Affiliations
Case Reports

Case Report: Transthyretin Glu54Leu-a rare mutation with predominant cardiac phenotype

Mariana Gospodinova et al. Front Cardiovasc Med. .

Abstract

We report two unrelated Bulgarian families with hereditary transthyretin (ATTR) amyloidosis due to a rare p.Glu74Leu (Glu54Leu) pathogenic variant found in seven individuals-three of them symptomatic. Only one family with the same variant and with a Swedish origin has been clinically described so far. Our patients are characterized by predominant cardiac involvement, very much similar to the Swedish patients. Although the initial complaint was bilateral carpal tunnel syndrome, advanced amyloid cardiomyopathy was found in two symptomatic carriers at diagnosis with heart failure manifestations. The neurological involvement was considered as mild, with mainly sensory signs and symptoms being present. We followed a non-biopsy algorithm to confirm the diagnosis. Tafamidis 61 mg has been initiated as the only approved disease modifying treatment for ATTR cardiomyopathy. Clinical stability in the absence of adverse events has been observed at follow up.

Keywords: amyloidosis; cardiomyopathy; p.Glu74Leu (Glu54Leu) mutation; polyneuropathy; transthyretin.

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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
Cardiac imaging of the proband from family 1. (A) Echocardiographic images; left, parasternal long axis view: thick left ventricular walls with sparkling appearance, small pericardial effusion, and thickened mitral valve leaflets; right, speckle tracking echocardiography and reduced global longitudinal strain with relative apical sparing in the bull's eye image. (B) 99mTc-pyrophosphate (99mTc-РYP) bone scintigraphy with SPECT/CT images. 99mTc-РYP myocardial uptake was assessed as grade 3. (C) Electrocardiography: sinus rhythm, low voltage, right axis deviation, and A-V block Ist degree.
Figure 2
Figure 2
Family pedigree. Relationship of the affected individuals in the families with the p.Glu74Leu variant. Arabic numerals refer to the case numbers in the text. (A) Family 1. (B) Family 2.
Figure 3
Figure 3
Cardiac imaging of the proband from family 2. (A) Echocardiographic images; upper left, parasternal apical view: thick walls, nondilated ventricles, and dilated atria; upper right, speckle tracking echocardiography: reduced global longitudinal strain with relative apical sparing on the bull's eye image; lower left, thick left ventricular walls with sparkling appearance, small pericardial effusion, and thickened mitral valve leaflets; lower right, reduced septal mitral annular tissue Doppler myocardial velocities. (B) Electrocardiography: sinus rhythm, low voltage, right axis deviation, and A-V block Ist degree. (C) 99mTc-pyrophosphate (99mTc-РYP) bone scintigraphy with SPECT/CT images. 99mTc-РYP myocardial uptake was assessed as grade 3.
See this image and copyright information in PMC

References

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