Stellenwert genetischer Untersuchungen beim Management des thorakalen Aortenaneurysmas (TAAD)

Background

Thoracic aortic aneurysms are characterized by a dilatation of the ascending aorta and a disposition to dissection of the ascending or descending aorta (thoracic aortic aneurysms and dissections, TAAD). Up to 20?% of cases are familial and as a rule follow an autosomal dominant pattern of inheritance.

Objectives

Heritability of TAAD is not always obvious, thus genetic tests have a high diagnostic value. This is primarily true for the non-syndromic, isolated cases of TAAD but also for syndromic cases, such as Marfan syndrome and Loeys-Dietz syndrome genetic testing should be performed.

Results

For the patient with manifest disease, the genetic differential diagnostics contribute to estimating the prognosis, planning of therapy and future management, such as timing of a prophylactic aorta replacement. Family members can benefit from predictive genetic testing with subsequent initiation of preventive options. The psychological relief ensuing from a negative genetic test result is often underestimated and the same is true for the cost savings for the healthcare system caused by a justifiable renouncement of possible lifelong follow-up preventive measures.