Autonomic Evaluation of Patients With Hereditary Amyloidotic Cardiomyopathy: Hereditary Amyloidotic Heart Disease

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).

Official Title
-----------------
Comparative Analysis of the Autonomic Profile Between Patients With Hereditary Amyloidotic Cardiomyopathy Caused by Transthyretin and Patients With Transthyretin Gene Mutation, Without Cardiomyopathy

Conditions
-----------------
Autonomic Nervous System Disease, Amyloid Neuropathies

Intervention / Treatment
-----------------
* Diagnostic Test: Head-Up Tilt table test
* Diagnostic Test: Heart Rate Variability


Participation Criteria
=================
Eligibility Criteria
-----------------
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: -

Ages Eligible for Study
-----------------
Minimum Age: 18 Years
Maximum Age: 80 Years

Sexes Eligible for Study
-----------------
All

Study Plan
=================
How is the study designed?
-----------------

Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| FAC group<br>Patients with familial amyloidotic cardiomyopathy. | Diagnostic Test: Head-Up Tilt table test<br>* Autonomic response assessment in the orthostatic head up tilt test.<br>* Other names: Tilt-test;Diagnostic Test: Heart Rate Variability<br>* Assessment of heart rate variability on 24-hour Holter monitoring..<br>|
| Non-FAC group<br>Patients with transthyretin gene mutations who do not have FAC. | Diagnostic Test: Head-Up Tilt table test<br>* Autonomic response assessment in the orthostatic head up tilt test.<br>* Other names: Tilt-test;Diagnostic Test: Heart Rate Variability<br>* Assessment of heart rate variability on 24-hour Holter monitoring..<br>|
| Control group<br>Healthy subjects. | Diagnostic Test: Head-Up Tilt table test<br>* Autonomic response assessment in the orthostatic head up tilt test.<br>* Other names: Tilt-test;Diagnostic Test: Heart Rate Variability<br>* Assessment of heart rate variability on 24-hour Holter monitoring..<br>|

What is the study measuring?
-----------------
Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Autonomic response profile of patients with FAC. | 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. | 6 months | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Correlation between dysautonomia and electrophysiological cardiac disturbances. | 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. | 6 months | 
| Correlation between dysautonomy and structural cardiac alterations. | Evaluate the relationship of dysautonomia changes with cardiac structural changes assessed by strain echocardiography. | 6 months |