Systemic amyloidosis results from extracellular deposition of fibrillar material derived
from aggregation of precursor proteins into insoluble beta-pleated sheets. The most
frequently recognized types are due to prolonged inflammation, deposition of immunoglobulin
light chains, and accumulation of transthyretin, a tetrameric protein synthesized
in the liver. Transthyretin amyloidosis can occur owing to wild-type or autosomal-dominant
mutant transthyretin and predominantly affects the heart and peripheral nervous system.
We present here 2 cousins with rapidly progressive cardiomyopathy secondary to TTR
p.Val40Ile, a rare variant with high penetrance.
1
Before genetic testing, each was thought to have an alternative diagnosis.To read this article in full you will need to make a payment
Purchase one-time access:
Academic & Personal: 24 hour online accessCorporate R&D Professionals: 24 hour online accessOne-time access price info
- For academic or personal research use, select 'Academic and Personal'
- For corporate R&D use, select 'Corporate R&D Professionals'
Subscribe:
Subscribe to The American Journal of MedicineAlready a print subscriber? Claim online access
Already an online subscriber? Sign in
Register: Create an account
Institutional Access: Sign in to ScienceDirect
References
- The “Wagshurst study”: p.Val40Ile transthyretin gene variant causes late-onset cardiomyopathy.Amyloid. 2014; 21: 267-275
- Diagnosis, prognosis, and therapy of transthyretin amyloidosis.J Am Coll Cardiol. 2015; 66: 2451-2466
- A comparison of immunohistochemistry and mass spectrometry for determining the amyloid fibril protein from formalin-fixed biopsy tissue.J Clin Pathol. 2015; 68: 314-317
- Genetic testing improves identification of transthyretin amyloid (ATTR) subtype in cardiac amyloidosis.Amyloid. 2017; 24: 92-95
- Nonbiopsy diagnosis of cardiac transthyretin amyloidosis.Circulation. 2016; 133: 2404-2412
- Magnetic resonance in transthyretin cardiac amyloidosis.J Am Coll Cardiol. 2017; 70: 466-477
- Broadening the phenotypic spectrum and the diagnostic needs of TTR-related cardiac amyloidosis.J Am Coll Cardiol. 2017; 70: 478-480
- First nationwide survey on systemic wild-type ATTR amyloidosis in Japan.Amyloid. 2017; : 1-3
Article info
Publication history
Published online: March 05, 2018
Footnotes
Funding: None.
Conflict of Interest: None.
Authorship: All authors had access to the data and a role in writing the manuscript.
Identification
Copyright
© 2018 Elsevier Inc. All rights reserved.
