Familial Thoracic Aortic Aneurysm and Aortic Dissection
Conditions
Keywords
familial thoracic aortic aneurysm and dissection, Linkage analysis, biomarkers
Brief summary
The aim of this study is to describe the effectiveness of the application of Linkage Analysis, compared to the standard procedures currently provided by the italian NHS, in the identification of thoracic aortic aneurysms and dissection (TAAD) transmission markers in individuals with familial TAAD.
Detailed description
According to current guidelines, it is important to screen first-degree relatives of patients with familial thoracic aortic aneurysm and dissection (FTAAD) using imaging techniques in order to detect any undiagnosed or asymptomatic cases. The current diagnostic methods for FTAAD involve clinical and instrumental diagnosis. In addition to these methods, genetic analysis through DNA testing, using a blood sample has become an essential tool. The use of massive parallel sequencing (NGS) of multiple genes or the entire exome (Whole Exome Sequencing - WES) is considered the gold standard for genetic diagnosis of FTAAD. However, it should be noted that linkage studies are not currently included in the diagnostic protocols of the Italian National Health System, although they may be helpful in complex familial cases where DNA sequencing has not provided conclusive evidence.
Interventions
DIAGNOSTIC_TESTLinkage Analysis
WES-Linkage analysis in families with FTAAD in follow-up in an Italian reference centre for genetic aorthopathies
Sponsors
IRCCS Ospedale San Raffaele
IRCCS Policlinico S. Donato
Study design
Observational model
FAMILY_BASED
Time perspective
CROSS_SECTIONAL
Eligibility
Sex/Gender
ALL
Age
18 Years to No maximum
Healthy volunteers
No
Inclusion criteria
* Patients with ascending thoracic aortic aneurysms in the absence of a mutation identified by WES * Subjects with small and medium artery aneurysms in the absence of a mutation identified by WES * Relatives of individuals with ascending thoracic aortic aneurysms in the absence of a mutation identified by WES * Relatives of individuals with ascending thoracic aortic aneurysms in the absence of a mutation identified by WES * Signed informed consent
Exclusion criteria
* Subjects wit syndromic FTAAD with WES identified gene mutation * Subjects wit non-syndromic FTAAD with WES identified gene mutation
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| DNA sequences in FTAAD | 16 months | Identify those chromosome regions containing the DNA sequences responsible for each enrolled member of FTAAD families |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Mutations associated with Mendelian and monogenic diseases | 24 months | Identification of potential sites for the location of the responsible gene and mutations associated with Mendelian and monogenic diseases. |
Countries
Italy
Outcome results
None listed