Application of Linkage Analysis in the Identification of Novel Hereditary Factors in Familial Aneurysms

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.

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