Comparative Analysis of the Autonomic Profile Between Patients With Hereditary Amyloidotic Cardiomyopathy Caused by Transthyretin and Patients With Transthyretin Gene Mutation, Without Cardiomyopathy
Trial Snapshot
- Phase
- Not Applicable
- Enrollment
- 60
- Locations
- 3
- Primary Endpoint
- Autonomic response profile of patients with FAC.
Study Overview
Brief Summary
Transthyretin amyloidosis exhibits a variety of possible phenotypes, the hereditary neurological form being the most commonly found and studied (familial amyloidotic polyneuropathy or FAP), which can present from oligosymptomatic patients to patients with peripheral sensorimotor polyneuropathy of varying degrees and dysautonomia.
Although a specific mutation usually causes a specific phenotype, that is, with a predominantly cardiac or preferential neurological profile, with the increase in the number of diagnosed cases, an overlapping of clinical presentations has been observed.
The assessment of the autonomic profile in individuals with familial amyloidotic cardiomyopathy (FAC) has not been well studied, and it is not known whether patients with an exclusively cardiac profile of the disease may present dysautonomia or whether even mutation carriers without cardiac involvement may exhibit it.
In this study, the autonomic profiles of patients with familial amyloidotic heart disease will be compared with the profiles of patients who have mutations but without established heart disease and healthy individuals (control group).
Study Design
- Study Type
- Observational
- Observational Model
- Cohort
- Time Perspective
- Cross Sectional
Eligibility Criteria
- Ages
- 18 Years to 80 Years (Adult, Older Adult)
- Sex
- All
- Accepts Healthy Volunteers
- No
Inclusion Criteria
- •FAC group: patients with familial familial amyloidotic cardiomyopathy (FAC).
- •Non-FAC group: patients with transthyretin gene mutations who do not have FAC.
- •Control group: healthy, asymptomatic individuals without comorbidities and without transthyretin gene mutations.
- •Agreement and signing the informed consent form.
Exclusion Criteria
- Not provided
Outcomes
Primary Outcomes
Autonomic response profile of patients with FAC.
Time Frame: 6 months
To compare the autonomic profile by analyzing the heart rate variability on 24 hours Holter monitoring, the patterns of chronotropic and pressure response and the valsalva maneuver in the tilt table test of patients with FAC, with individuals with mutations of the transthyretin gene without FAC and in healthy individuals.
Secondary Outcomes
- Correlation between dysautonomy and structural cardiac alterations.(6 months)
- Correlation between dysautonomia and electrophysiological cardiac disturbances.(6 months)