Genetic aortopathies: a case-based approach to multidisciplinary program development

Abstract

Purpose of review The incorporation of genetic counseling and testing is essential to evaluation and management of thoracic aortic disease in patients under 60 years of age and those with family histories suspicious for heritable thoracic aortic disease and disorders associated with increased risk for acute type-A aortic dissection. Recent findings As many as 20% of individuals with thoracic aortic disease under the age of 60 years have autosomal dominant patterns of inheritance. A considerable number of heritability factors remain undefined for these families. Summary Genetic aortopathy programs require a collaborative approach including cardiovascular specialists and surgeons, medical geneticists, genetic counselors, and allied healthcare professionals. Comprehensive evaluation and management of these patients includes collection of detailed phenotypic data to inform the broader community and identify new associated and causative genes of interest, genetic modifiers, and other risk factors. These programs optimize outcomes and reduce the overall burden in the population of acute aortic dissection and related comorbidities.