Aortic Stiffness in Patients With Genetic Aortopathies

Study Overview
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Brief Summary
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The goal of this observational study is to study arterial stiffness in patients with ascending aortic aneurysms, either syndromic or non syndromic. The main questions it aims to answer are: Stratification of aortic risk based on Pulse Wave Velocity; Compare measurements with morphological and hemodynamic features of the ascending thoracic aorta. Participants will be asked to undergo non invasive evaluation of blood pressure and arterial pulse wave velocity.

Detailed Description
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Recent studies have highlighted the role played by the aorta and the great arteries in the regulation of the blood pressure (BP) and peripheral blood flow. Similarly, the structural and functional alteration of the aortic wall having a genetic cause is highly associated with the onset of aneurysms, especially of the ascending aorta, for which it is essential to monitor the aortic stiffness, which is detectable through a non-invasive and non-radioactive method such as Pulse Wave Velocity (PWV). Despite literature studies correlating PWV in MFS, few evaluations of aortic stiffness in patients with syndromic TAA have been done and its potential correlations with other aneurysm markers.

Official Title
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Aortic Stiffness in Patients With Genetic Aortopathies: Intervention Analysis

Conditions
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Rare Diseases, Aortic Stiffness, Connective Tissue Defect

Intervention / Treatment
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* Device: Pulsotonometry


Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: Subjects with AAT, either syndromic or non syndromic; Signed informed consent Exclusion Criteria: Patients with early menopause and/or osteoporosis, rheumatic heart disease and active malignant tumours; Patients with acute and chronic inflammatory conditions such as: chronic liver disease, chronic renal insufficiency and diseases affecting the thyroid system; Seropositivity to HIV, HCV, HBsAg and SARS-CoV-2; Pregnancy
Sexes Eligible for Study
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All

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Syndromic TAA<br>Subjets with clinical or genetic diagnosis of syndromic thoracic aortic aneurysms | Device: Pulsotonometry<br>* Evaluation of arterial stiffness<br>|
| Non-syndromic TAA<br>Subjets without clinical or genetic diagnosis of syndromic thoracic aortic aneurysms | Device: Pulsotonometry<br>* Evaluation of arterial stiffness<br>|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Pulse Wave Velocity | Statistic analysis will be performed using the Statistical Package for Social Science (SPSS for Windows; v20.0; SPSS, Chicago, Illinois, USA). Continuous variables will be expressed as mean ± Standard Deviation, while qualitative variables will be expressed as a percentage. Qualitative data will be compared using Fisher's test or Pearson's χ2 test, when appropriate. Continuous variables by t-test or analysis of variance normalized for covariates. Continuous variables will be correlated by simple or multiple linear regression | 18 months | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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arterial stiffness, Ascending aortic aneurysm, pulse wave velocity