ArticleClinical autonomic research : official journal of the Clinical Autonomic Research Society2023
Cardiovascular reflex tests detect autonomic dysfunction in symptomatic and pre-symptomatic subjects with hereditary transthyretin amyloidosis.
Article in Clinical autonomic research : official journal of the Clinical Autonomic Research Society, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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6 citing papers in PubMed, 15 citations in OpenAlex.
- Utility and best practices for clinical diagnostic testing of the autonomic nervous system: A Consensus Statement Endorsed by the American Autonomic Society and the American Association of Neuromuscular & Electrodiagnostic Medicine.Clinical autonomic research : official journal of the Clinical Autonomic Research Society · 2026Review
- The Vagal Link: Autonomic Nervous System Dysfunction in Cardiac Amyloidosis.Journal of clinical medicine · 2025Review
- Examination of the autonomic nervous system at the bedside.Acta neurologica Belgica · 2025Review
- Cardiovascular autonomic failure in hereditary transthyretin amyloidosis and TTR carriers is an early and progressive disease marker.Clinical autonomic research : official journal of the Clinical Autonomic Research Society · 2024Article
- Patisiran for the treatment of patients with p.Ile88Leu hereditary transthyretin amyloidosis: an Italian real-life experience.Frontiers in neurology · 2024Article
- Early autonomic biomarkers in ATTRv carriers.Clinical autonomic research : official journal of the Clinical Autonomic Research Society · 2023Article
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14 authors at 5 institutions in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
purposeAutonomic dysfunction is a distinctive but undervalued feature of hereditary transthyretin amyloidosis (ATTRv). It may predate the onset of polyneuropathy and cardiomyopathy, thereby providing crucial prognostic and therapeutic information. The objective of this study was to assess autonomic function by means of the standardized cardiovascular autonomic reflex tests (CRTs) in a cohort of subjects with genetically proven ATTRv from non-endemic areas who were in the symptomatic and pre-symptomatic stages.
methodsAll subjects enrolled in this cross-sectional study had genetically proven ATTRv. They underwent the head-up tilt test, Valsalva manoeuvre, deep breathing test, cold face test and handgrip test while under continuous blood pressure and heart rate monitoring. Based on the results of the nerve conduction study, the subjects were divided into two groups: those with polyneuropathy (ATTRv-wPN) and those without polyneuropathy (ATTRv-woPN). Age- and sex-matched healthy controls (HC) were used for comparison.
resultsThirty-seven ATTRv subjects (19 with ATTRv-wPN, 18 with ATTRv-woPN) and 41 HC performed the CRTs. Of these 37 subjects with ATTRv, four (11%) presented neurogenic orthostatic hypotension the during head-up tilt test. Based on the results of the CRTs, autonomic dysfunction characterized by either sympathetic or parasympathetic impairment was detected in 37% and 63% of ATTRv-wPN subjects, respectively. Subjects with ATTRv-woPN presented a significant impairment of autonomic responses to the Valsalva manoeuvre compared to the HC (overshoot p = 0.004; Valsalva ratio p = 0.001).
conclusionAutonomic dysfunctions are frequent in subjects with ATTRv when investigated by means of standardized CRTs, and are also relevant in the pre-symptomatic stage. Cardiovagal functions are the primary functions affected, among others. This may be crucial in defining the proper diagnostic workout for early diagnosis and improving the likelihood of providing the patient with prompt administration of disease-modifying treatments.
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