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

NCT05087953 | Unknown

• 1 other identifier: SDC 5045/20/074
• Study Type: observational
• Target: 60
• Locations: 1 country
• Sites: 3

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).

Conditions

Autonomic Nervous System Disease; Amyloid Neuropathies

Outcome Measures

Primary Outcomes (1)

• 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 Outcomes (2)

• Correlation between dysautonomia and electrophysiological cardiac disturbances.

  6 months

• Correlation between dysautonomy and structural cardiac alterations.

  6 months

Study Arms (3)

FAC group

Patients with familial amyloidotic cardiomyopathy.

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

Non-FAC group

Patients with transthyretin gene mutations who do not have FAC.

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

Control group

Healthy subjects.

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

Interventions

Head-Up Tilt table test DIAGNOSTIC_TEST

Autonomic response assessment in the orthostatic head up tilt test.

Also known as: Tilt-test

Control group; FAC group; Non-FAC group

Heart Rate Variability DIAGNOSTIC_TEST

Assessment of heart rate variability on 24-hour Holter monitoring..

Control group; FAC group; Non-FAC group

Eligibility Criteria

• Age: 18 Years - 80 Years
• Sex: all
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Probability Sample

Study Population

* Ischemic or hemorrhagic stroke within the last 6 months; * History of ischemic heart disease; * Pregnancy; * Severe lung disease; * Resistant systemic arterial hypertension; * Diabetics; * Presence of pacemaker or CDI.

You may qualify if:

• 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.

Sponsors & Collaborators

• University of Sao Paulo General Hospital: lead
• Fleury: collaborator

Study Sites (3)

Instituto do Coração - Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo

São Paulo, São Paulo, 05403-900, Brazil

Location

University of Sao Paulo Medical School - The Heart Institute

São Paulo, 05403-000, Brazil

Location

Fabio Fernandes

São Paulo, 05403000, Brazil

Location

Related Publications (4)

• Rapezzi C, Quarta CC, Riva L, Longhi S, Gallelli I, Lorenzini M, Ciliberti P, Biagini E, Salvi F, Branzi A. Transthyretin-related amyloidoses and the heart: a clinical overview. Nat Rev Cardiol. 2010 Jul;7(7):398-408. doi: 10.1038/nrcardio.2010.67. Epub 2010 May 18.

  PMID: 20479782 BACKGROUND

• Cruz MW. Regional differences and similarities of familial amyloidotic polyneuropathy (FAP) presentation in Brazil. Amyloid. 2012 Jun;19 Suppl 1:65-7. doi: 10.3109/13506129.2012.673183. Epub 2012 Apr 12.

  PMID: 22494049 BACKGROUND

• Queiroz MC, Pedrosa RC, Berensztejn AC, Pereira Bde B, Nascimento EM, Duarte MM, Pereira-Junior PP, Cruz MW. Frequency of Cardiovascular Involvement in Familial Amyloidotic Polyneuropathy in Brazilian Patients. Arq Bras Cardiol. 2015 Nov;105(5):503-9. doi: 10.5935/abc.20150112. Epub 2015 Sep 8.

  PMID: 26351985 BACKGROUND

• Cruz MW, Foguel D, Berensztejn AC, Pedrosa RC, Mundayat R, Ong ML; THAOS Investigators. The demographic, genetic, and clinical characteristics of Brazilian subjects enrolled in the Transthyretin Amyloidosis Outcomes Survey. Amyloid. 2017 Mar;24(sup1):103-104. doi: 10.1080/13506129.2017.1291423. No abstract available.

  PMID: 28434317 BACKGROUND

MeSH Terms

Conditions

Amyloid Neuropathies

Interventions

Tilt-Table Test

Condition Hierarchy (Ancestors)

Peripheral Nervous System Diseases; Neuromuscular Diseases; Nervous System Diseases; Amyloidosis; Proteostasis Deficiencies; Metabolic Diseases; Nutritional and Metabolic Diseases

Intervention Hierarchy (Ancestors)

Diagnostic Techniques, Cardiovascular; Diagnostic Techniques and Procedures; Diagnosis

Central Study Contacts

Bruno VK Bueno, MD

CONTACT

+55(11)98187-7226; vazkerges@gmail.com

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: October 8, 2021
• First Posted: October 21, 2021
• Study Start: January 1, 2022
• Primary Completion: January 1, 2023
• Study Completion: July 1, 2023
• Last Updated: October 21, 2021

Record last verified: 2021-10

Data Sharing

• IPD Sharing: Will not share

Locations

BR (3)