Amyloid Neuropathies, Autonomic Nervous System Disease
Conditions
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).
Interventions
DIAGNOSTIC_TESTHead-Up Tilt table test
Autonomic response assessment in the orthostatic head up tilt test.
DIAGNOSTIC_TESTHeart Rate Variability
Assessment of heart rate variability on 24-hour Holter monitoring..
Sponsors
Fleury
University of Sao Paulo General Hospital
Study design
Observational model
COHORT
Time perspective
CROSS_SECTIONAL
Eligibility
Sex/Gender
ALL
Age
18 Years to 80 Years
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
\-
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Autonomic response profile of patients with FAC. | 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
| Measure | Time frame | Description |
|---|---|---|
| Correlation between dysautonomia and electrophysiological cardiac disturbances. | 6 months | Evaluate the relationship of dysautonomia with atrioventricular, intraventricular, interventricular conduction disturbances, presence of late potentials in the high-resolution electrocardiogram and occurrence of supraventricular and ventricular arrhythmias on Holter monitoring. |
| Correlation between dysautonomy and structural cardiac alterations. | 6 months | Evaluate the relationship of dysautonomia changes with cardiac structural changes assessed by strain echocardiography. |
Countries
Brazil
Contacts
Primary ContactBruno VK Bueno, MD
Outcome results
None listed