Aortic aneurysm, familial thoracic 5 (AAT5) [I71.1] [I71.2]
Dr. rer. nat. Karin Mayer
AAT5 was initially regarded as a further gene locus for familial TAAD on chromosome 9q33–q34. After discovering mutations in the TGFBR1 (Transforming Growth Factor Beta Receptor 1) gene as a cause for Loeys-Dietz syndrome, TGFBR1 mutations were also identified in 1% of all patients with isolated TAAD and positive family history.