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Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
Published on: June 9, 2018
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Aortic stenosis and transthyretin cardiac amyloidosis: the chicken or the egg?
Arnault Galat1,2,3,4,5, Aziz Guellich1,2,3,4,5, Diane Bodez1,2,3,4,5
1UPEC, Créteil F-94000, France.
European Heart Journal
|February 25, 2016
Summary
The combination of aortic stenosis (AS) and transthyretin cardiac amyloidosis (TTR-CA) is found in elderly patients, often with low-gradient AS, and is associated with a poor prognosis. Early diagnosis of TTR-CA in AS patients is crucial for management.
Area of Science:
- Cardiology
- Geriatrics
- Genetics
Background:
- Aortic stenosis (AS) and transthyretin cardiac amyloidosis (TTR-CA) are common in the elderly population.
- The co-occurrence of AS and TTR-CA has not been previously investigated.
Purpose of the Study:
- To describe the characteristics of patients presenting with both AS and TTR-CA.
- To highlight the clinical presentation and outcomes of this combined condition.
Main Methods:
- Retrospective analysis of patients with AS and TTR-CA from six French cardiologic centers over six years.
- Inclusion criteria: severe or moderate AS with confirmed or suspected TTR-CA.
Main Results:
- Sixteen patients were included, with a mean age of 79 years; 88% had severe AS, and 86% of those had low-gradient AS.
- Common comorbidities included NYHA III-IV (60%), carpal tunnel syndrome (31%), and atrial fibrillation (56%).
- Mortality was high at 44% during the follow-up period.
Conclusions:
- The combination of AS and TTR-CA, particularly with a low-gradient AS pattern, occurs in elderly individuals and carries a poor prognosis.
- Diagnosing TTR-CA in AS patients is essential for guiding specific treatment and management strategies.
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