A. Frequency of rare copy number variants in heritable Thoracic Aortic aneurysm

A. Frequency of rare copy number variants in heritable Thoracic Aortic aneurysm Disease and Bicuspid aortic valve and enrichment in early onset disease
B. Penetrance of cardiac phenotypes in 22q copy number variants: is there previous evidence for contribution of 22q copy number variants to non-syndromic Bicuspid aortic valves?
C. Facial and clinical features of 22q in Early bicuspid aortic valve families.
D. Candidate genes in 22q: what genes are likely to cause bicuspid aortic valve when dosage is varied? Why? How do they relate to known bicuspid aortic valve genes?
E. Do we have rare exome sequence variants in bicuspid aortic valve cases of these 22q copy number variant genes?