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Updated: Mar 1, 2026
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Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
Published on: June 9, 2018
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Autonomic dysfunction in patients with wild-type transthyretin amyloidosis
Vera E A Kleinveld1, Julia Wanschitz1, Anna Hotter1
1Department of Neurology, Medical University of Innsbruck, Innsbruck, Austria.
Journal of Neurology
|February 27, 2026
Summary
Wild-type transthyretin amyloidosis (ATTRwt) patients often have undiagnosed autonomic dysfunction. Detailed testing revealed significant cardiovascular autonomic impairment, contributing to the disease
Area of Science:
- Cardiology
- Neurology
- Genetics
Background:
- Autonomic dysfunction is recognized in hereditary transthyretin amyloidosis (ATTRv).
- Systematic study of autonomic dysfunction in wild-type transthyretin amyloidosis (ATTRwt) is lacking.
- ATTRwt primarily presents with cardiomyopathy, and autonomic symptoms may mimic heart failure.
Purpose of the Study:
- To investigate the presence and extent of autonomic dysfunction in ATTRwt patients.
Main Methods:
- Extensive autonomic examination in 20 ATTRwt patients and 20 controls.
- Included standardized questionnaires, orthostatic challenges, Valsalva maneuver, deep breathing, and sudomotor assessment.
Main Results:
- Impaired blood pressure and heart rate regulation during orthostatic challenges in ATTRwt patients.
- 83% of ATTRwt patients showed pathological Valsalva maneuver results, compared to 30% of controls.
- No difference in pathological sweat tests between groups.
Conclusions:
- Autonomic symptoms are infrequently reported in ATTRwt.
- Detailed assessment reveals significant cardiovascular autonomic dysfunction in ATTRwt.
- This dysfunction contributes to the overall clinical phenotype of ATTRwt.
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