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Case Reports
. 2020 Nov 4;2(13):2063-2067.
doi: 10.1016/j.jaccas.2020.08.030. eCollection 2020 Nov.

Early-Onset of Transthyretin Amyloidosis in a Young Afro-Caribbean Woman With Thr60Ala Mutation

Stormy C Keppel  1 , Thomas H Brannagan 3rd  2 , Stephen Helmke  3 , Jeffeny De Los Santos  3 , Leidy J Gonzalez  2 , Raisy Fayerman  2 , Sergio Teruya  3 , Mathew S Maurer  3
Affiliations
Case Reports

Early-Onset of Transthyretin Amyloidosis in a Young Afro-Caribbean Woman With Thr60Ala Mutation

Stormy C Keppel et al. JACC Case Rep. .

Abstract

Transthyretin amyloidosis involves the deposition of transthyretin amyloid fibrils in the body. We report an unusual case of a young Afro-Caribbean woman harboring a Thr60Ala mutation who presented with clinical signs of heart failure and polyneuropathy confirmed with genetic testing and results of an abdominal fat pad biopsy. (Level of Difficulty: Intermediate.).

Keywords: ECG, electrocardiogram; TTR, transthyretin; Thr60Ala, alanine for threonine substitution at amino acid 60; amyloidosis; cardiomyopathy; early-onset; hATTR, hereditary transthyretin amyloidosis; hereditary; polyneuropathy; transthyretin.

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Conflict of interest statement

Dr. Maurer has received grant support from the National Institutes of Health (R01HL139671-01, R21AG058348, and K24AG036778); consulting income from Pfizer, EIdos, Prothena, Akcea, and Alnylam; and clinical trial funding from Pfizer, Prothena, Eidos, and Alnylam to his institution. All other authors have reported that they have no relationships relevant to the contents of this paper to disclose.

Figures

Figure 1
Figure 1
Electrocardiogram Demonstrating Sinus Tachycardia With T-Wave Flattening, Normal R-Wave Progression, and No ST-Segment Changes
Figure 2
Figure 2
Short-Axis at the Papillary Muscle Level
Figure 3
Figure 3
Left Ventricular Strain Displayed by Bull’s Eye Showing a Low Global Strain of –11%
Figure 4
Figure 4
Pedigree Spanning 3 Generations Showing the Penetrance of Transthyretin Amyloidosis in the Patient’s Family KP = patient of interest.
See this image and copyright information in PMC

References

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