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

University of Sao Paulo General Hospital

Status: Unknown

Conditions: Amyloid Neuropathies; Autonomic Nervous System Disease

Treatments: Diagnostic Test: Heart Rate Variability; Diagnostic Test: Head-Up Tilt table test

Study type: Observational

Funder types: Other

Identifiers

NCT05087953

SDC 5045/20/074

Details and patient eligibility

About

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).

Enrollment: 60 estimated patients

Sex: All

Ages: 18 to 80 years old

Volunteers: No Healthy Volunteers

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

Trial design

60 participants in 3 patient groups

FAC group

Description:

Patients with familial amyloidotic cardiomyopathy.

Treatment:

Diagnostic Test: Head-Up Tilt table test

Diagnostic Test: Heart Rate Variability

Non-FAC group

Description:

Patients with transthyretin gene mutations who do not have FAC.

Treatment:

Diagnostic Test: Head-Up Tilt table test

Diagnostic Test: Heart Rate Variability

Control group

Description:

Healthy subjects.

Treatment:

Diagnostic Test: Head-Up Tilt table test

Diagnostic Test: Heart Rate Variability