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

• Conditions: Autonomic Nervous System Disease; Amyloid Neuropathies
• Interventions: Diagnostic Test: Head-Up Tilt table test; Diagnostic Test: Heart Rate Variability

• Registration Number: NCT05087953
• Lead Sponsor: University of Sao Paulo General Hospital

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).

Detailed Description

Not available

Study Timeline

• Status Verified: 2021-10
• Study First Submitted: 2021-10-08
• Study First Submitted QC: 2021-10-20
• Last Update Submitted: 2021-10-20
• Study First Posted: 2021-10-21
• Last Update Posted: 2021-10-21
• Study Start: 2022-01
• Primary Completion: 2023-01
• Study Completion: 2023-07

Recruitment & Eligibility

• Status: UNKNOWN
• Sex: All
• Target Recruitment: 60

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

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Arm && Interventions

Group	Intervention	Description
FAC group	Heart Rate Variability	Patients with familial amyloidotic cardiomyopathy.
Non-FAC group	Head-Up Tilt table test	Patients with transthyretin gene mutations who do not have FAC.
Non-FAC group	Heart Rate Variability	Patients with transthyretin gene mutations who do not have FAC.
Control group	Head-Up Tilt table test	Healthy subjects.
Control group	Heart Rate Variability	Healthy subjects.
FAC group	Head-Up Tilt table test	Patients with familial amyloidotic cardiomyopathy.

Primary Outcome Measures

Name	Time	Method
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 Outcome Measures

Name	Time	Method
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.

Trial Locations

Locations (3)

Fabio Fernandes; 🇧🇷 São Paulo, Brazil

Instituto do Coração - Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo; 🇧🇷 São Paulo, Sao Paulo, Brazil

University of Sao Paulo Medical School - The Heart Institute; 🇧🇷 Sao Paulo, Brazil