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Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
Published on: June 9, 2018
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.
Insights
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.
Background:
Aortic stenosis (AS) and transthyretin cardiac amyloidosis (TTR-CA) are both frequent in elderly. The combination of these two diseases has never been investigated.
Aims:
To describe patients with concomitant AS and TTR-CA.
Methods:
Six cardiologic French centres identified retrospectively cases of patients with severe or moderate AS associated with TTR-CA hospitalized during the last 6 years.
Results:
Sixteen patients were included. Mean ± SD age was 79 ± 6 years, 81% were men. Sixty per cent were NYHA III-IV, 31% had carpal tunnel syndrome, and 56% had atrial fibrillation. Median (Q1;Q4) NT-proBNP was 4382 (2425;4730) pg/mL and 91% had elevated cardiac troponin level. Eighty-eight per cent had severe AS (n = 14/16), of whom 86% (n = 12) had low-gradient AS. Mean ± SD interventricular septum thickness was 18 ± 4 mm. Mean left ventricular ejection fraction and global LS were 50 ± 13% and -7 ± 4%, respectively. Diagnosis of TTR-CA was histologically proven in 38%, and was based on strong cardiac uptake of the tracer at biphosphonate scintigraphy in the rest. Eighty-one per cent had wild-type TTR-CA (n = 13), one had mutated Val122I and 19% did not had genetic test (n = 3). Valve replacement was surgical in 63% and via transcatheter in 13%. Median follow-up in survivors was 33 (16;65) months. Mortality was of 44% (n = 7) during the whole follow-up period.
Conclusions:
Combination of AS and TTR-CA may occur in elderly patients particularly those with a low-flow low-gradient AS pattern and carries bad prognosis. Diagnosis of TTR-CA in AS is relevant to discuss specific treatment and management.
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