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Updated: Sep 2, 2025
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Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
Published on: June 9, 2018
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Transthyretin cardiac amyloidosis
Aldostefano Porcari1,2, Marianna Fontana1, Julian D Gillmore1
1National Amyloidosis Centre, Division of Medicine, University College London, Royal Free Campus, Rowland Hill Street, London NW3 2PF, UK.
Cardiovascular Research
|August 5, 2022
Summary
Transthyretin cardiac amyloidosis (ATTR-CA) is a growing cause of heart failure. Early diagnosis and new treatments are crucial for managing this condition and improving patient survival.
Area of Science:
- Cardiology
- Genetics
- Internal Medicine
Background:
- Transthyretin cardiac amyloidosis (ATTR-CA) is an underdiagnosed cause of heart failure and mortality.
- Advances in diagnostics and therapeutics have transformed ATTR-CA from rare to prevalent.
- ATTR-CA arises from wild-type (ATTRwt) or variant (ATTRv) transthyretin amyloidosis.
Purpose of the Study:
- To highlight the increasing recognition and clinical significance of ATTR-CA.
- To emphasize the importance of early diagnosis and available treatments for ATTR-CA.
- To discuss diagnostic markers and therapeutic advancements in ATTR-CA.
Main Methods:
- Review of longitudinal studies on ATTR-CA incidence.
- Analysis of cardiac involvement in heart failure patients.
- Evaluation of diagnostic tools including echocardiography, cardiac MRI, and radionuclide scintigraphy.
- Assessment of early disease markers like carpal tunnel syndrome.
Main Results:
- US incidence of cardiac amyloidosis is 17 per 100,000, a significant increase from previous estimates.
- Cardiac involvement is a primary cause of mortality in ATTRwt and ATTRv amyloidosis.
- Up to 15% of heart failure with preserved ejection fraction patients have cardiac amyloidosis.
- Carpal tunnel syndrome can be an early indicator of ATTR-CA.
Conclusions:
- Early recognition of ATTR-CA is critical for effective management.
- Available therapies can slow disease progression and improve survival.
- Clinicians must consider ATTR-CA in daily practice due to its prevalence and treatability.
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