Genetic testing in thoracic aortic aneurysm or dissection

Several issues are still open about genetic testing, in particular in sporadic TAADs. In familial TAADs, existing knowledge on disease genes provides the basis for implementing disease-specific diagnostic work-up and genetic testing. Advanced technologies for DNA sequencing NGS platforms will rapidly modify the current scenario and increase the series of TAADs specifically diagnosed on the basis of the disease genes. In parallel, clinical phenotypes associated with mutations of the different disease genes will be confirmed.