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The aim of this observational study is to define the behavioural and cardiovascular risk factor profiles of patients with genetic aortopathies. The main questions it aims to answer are:
Thoracic aortic aneurysms (TAA) present peculiar symptoms as well as high mortality due to complications related to dilatation and dissection of the ascending aorta and great arteries. The presence or absence of extra-aortic features determines whether TAADs are syndromic, associated with diseases affecting other systems and organs, or non-syndromic, with manifestations limited to the aorta. Life expectancy of patients withTAA has improved markedly in the last decades, but still remains lower than that of the general population.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| TAA | subjects with TAA aged between 14 and 60 years |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Journey to diagnosis | Other | Questions relating to the course and experience/history of the disease from the onset of symptoms to confirmation of diagnosis; accessibility to referral facilities for treatment and follow-up. |
| Measure | Description | Time Frame |
|---|---|---|
| Journey to diagnosis | The mean, median, standard deviation and interquartile range will be used for continuous variables, whereas frequency and percentage will be applied for nominal and categorical variables. The Shapiro-Wilks test will be used to assess the Gaussian distributions. | 15 months |
| Quality of life, functional health and well-being | The mean, median, standard deviation and interquartile range will be used for continuous variables, whereas frequency and percentage will be applied for nominal and categorical variables. The Shapiro-Wilks test will be used to assess the Gaussian distributions. | 15 months |
| Awareness and self-esteem, acceptance of the condition | The mean, median, standard deviation and interquartile range will be used for continuous variables, whereas frequency and percentage will be applied for nominal and categorical variables. The Shapiro-Wilks test will be used to assess the Gaussian distributions. | 15 months |
| psychological and physical well-being | The mean, median, standard deviation and interquartile range will be used for continuous variables, whereas frequency and percentage will be applied for nominal and categorical variables. The Shapiro-Wilks test will be used to assess the Gaussian distributions. | 15 months |
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Inclusion Criteria:
Exclusion Criteria:
-
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Patients with TAA either syndromic or non-syndromic followed at the Cardiovascular Genetic Centre, IRCCS Policlinico San Donato
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Alessandro Pini, MD | Contact | +390252774705 | alessandro.pini@grupposandonato.it |
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| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Irccs Policlinico San Donato | Recruiting | Milan | 20097 | Italy |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 29204794 | Background | Saeyeldin AA, Velasquez CA, Mahmood SUB, Brownstein AJ, Zafar MA, Ziganshin BA, Elefteriades JA. Thoracic aortic aneurysm: unlocking the "silent killer" secrets. Gen Thorac Cardiovasc Surg. 2019 Jan;67(1):1-11. doi: 10.1007/s11748-017-0874-x. Epub 2017 Dec 4. | |
| 34106976 | Background | Udugampolage N, Caruso R, Panetta M, Callus E, Dellafiore F, Magon A, Marelli S, Pini A. Is SF-12 a valid and reliable measurement of health-related quality of life among adults with Marfan syndrome? A confirmatory study. PLoS One. 2021 Jun 9;16(6):e0252864. doi: 10.1371/journal.pone.0252864. eCollection 2021. |
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PD will not or might not be shared according to the preliminary results
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| Quality of life, functional health and well-being | Other | Qestionnaires |
|
| Awareness and self-esteem, acceptance of the condition | Other | questionnaire related to the quality of life and self-care |
|
| psychological and physical well-being | Other | questionnaire to describe psychological and physical well-being. |
|
| ID | Term |
|---|---|
| D017545 | Aortic Aneurysm, Thoracic |
| D035583 | Rare Diseases |
| ID | Term |
|---|---|
| D001014 | Aortic Aneurysm |
| D000783 | Aneurysm |
| D014652 | Vascular Diseases |
| D002318 | Cardiovascular Diseases |
| D001018 | Aortic Diseases |
| D020969 | Disease Attributes |
| D010335 | Pathologic Processes |
| D013568 | Pathological Conditions, Signs and Symptoms |
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| ID | Term |
|---|---|
| D011788 | Quality of Life |
| D006262 | Health |
| ID | Term |
|---|---|
| D006304 | Health Status |
| D003710 | Demography |
| D015991 | Epidemiologic Measurements |
| D011634 | Public Health |
| D004778 | Environment and Public Health |
| D011154 | Population Characteristics |
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