Bicuspid Aortic Valve and Thoracic Aortic Aneurysm: Three Patient Populations, Two Disease Phenotypes, and One Shared Genotype

Table 1

Summary of concepts and future directions.

(i) Malformation of the aortic valve and aorta shares underlying mechanisms.
(ii) The complex inheritance underlying BAV and TAA may represent more overlap than previously considered.
(iii) Genetic testing will play an increasing role in the clinical management of these patients.
(iv) Future guidelines should consider reconciling complementary considerations by combining recommendations for valve disease and aortopathy.
(v) Research efforts combining family-based studies with whole-genome exome sequencing promises to help define nonsyndromic BAV-TAA causes.
(vi) Research efforts studying animal models with both AVD and TAA are necessary to advance mechanistic insights and identify new therapies.