Cardiogenetics: genetic testing in the diagnosis and management of patients with aortic disease.

Abstract excerpt

Thoracic aortic aneurysm and aortic dissection have a potent genetic underpinning with 20% of individuals having an affected relative. Heritable thoracic aortic diseases (HTAD) may be classified as syndromic (including Marfan syndrome, Loeys-Dietz syndrome, vascular Ehlers-Danlos syndrome and others) or non-syndromic (without recognisable phenotypes) and relate to pathogenic variants in multiple genes affecting...

Topics

Join the communities discussing this publication.

• Aortic Diseases
• Disease Management
• Genetic Testing
• Phenotype