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| Name | Class |
|---|---|
| Fleury | UNKNOWN |
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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).
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| FAC group | Patients with familial amyloidotic cardiomyopathy. |
| |
| Non-FAC group | Patients with transthyretin gene mutations who do not have FAC. |
| |
| Control group | Healthy subjects. |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Head-Up Tilt table test | Diagnostic Test | Autonomic response assessment in the orthostatic head up tilt test. |
|
| 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 |
| 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 |
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Inclusion Criteria:
Exclusion Criteria:
-
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| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Bruno VK Bueno, MD | Contact | +55(11)98187-7226 | vazkerges@gmail.com |
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| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Instituto do Coração - Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo | São Paulo | São Paulo | 05403-900 | Brazil |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 20479782 | Background | 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. | |
| 22494049 | 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. |
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|
| Heart Rate Variability | Diagnostic Test | Assessment of heart rate variability on 24-hour Holter monitoring.. |
|
| Correlation between dysautonomy and structural cardiac alterations. | Evaluate the relationship of dysautonomia changes with cardiac structural changes assessed by strain echocardiography. | 6 months |
| University of Sao Paulo Medical School - The Heart Institute | São Paulo | 05403-000 | Brazil |
| Fabio Fernandes | São Paulo | 05403000 | Brazil |
| 26351985 | 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. |
| 28434317 | 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. |
| ID | Term |
|---|---|
| D017772 | Amyloid Neuropathies |
| ID | Term |
|---|---|
| D010523 | Peripheral Nervous System Diseases |
| D009468 | Neuromuscular Diseases |
| D009422 | Nervous System Diseases |
| D000686 | Amyloidosis |
| D057165 | Proteostasis Deficiencies |
| D008659 | Metabolic Diseases |
| D009750 | Nutritional and Metabolic Diseases |
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| ID | Term |
|---|---|
| D018667 | Tilt-Table Test |
| ID | Term |
|---|---|
| D003935 | Diagnostic Techniques, Cardiovascular |
| D019937 | Diagnostic Techniques and Procedures |
| D003933 | Diagnosis |
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