This is a genotype with recommended actions if clinically confirmed. In brief:
- FTAAD is a rare genetic vascular disease characterized by the familial occurrence of thoracic aortic aneurysm, dissection, or dilatation.
- Mutations in several genes may lead to FTAAD, including ACTA2, FBN1, LOX, MYH11, PRKG1, SMAD3, TGFB2, TGFBR1 and TGFBR2.
- Management of thoracic aortic aneurysm and/or dissection requires coordinated input from a multidisciplinary team of specialists familiar with FTAAD, including a clinical geneticist, cardiologist, and cardiothoracic and vascular surgeons.
- Prophylactic surgical repair of the aorta is recommended at 4.5-5.0 cm for patients with MYH11, SMAD3, and ACTA2 mutations and at 4.0-4.5 cm for patients with pathogenic variants in TGFBR1 or TGFBR2.
- Beta adrenergic-blocking agents are recommended to reduce aortic dilation.
- Hypertension and other cardiovascular risk factors, including hyperlipidemia, should be promptly identified and treated.
- Individuals with a pathogenic variant in TGFBR1/2 should be taught the signs and symptoms of aortic dissection and should consider wearing a medical alert bracelet.
- Women should be managed closely throughout the pregnancy, ideally in a high-risk obstetric clinic with a multidisciplinary team.
- Patients with a confirmed genetic variant known to predispose to aortic aneurysms and aortic dissections should undergo complete aortic imaging at initial diagnosis and 6 months later.
- Athletes with a pathogenic variant in a gene associated with FTAAD should be evaluated for additional risk factors and/or symptoms.
The full ClinGen Actionability report about familial thoracic aortic aneurysms and dissections(FTAAD) can be found here.
Genetic counseling may be available to you through your health-care network. In the US, genetic counselors may be found via this webpage of the National Society of Genetic Counselors.