Abstract 14188: Bicuspid Aortic Valve Disease Relatives Show No Evidence of an Inherited Aortopathy

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Introduction: Bicuspid aortic valve (BAV) disease is known to be heritable and often shows a concomitant aortopathy. Whether this aortopathy is more prevalent in BAV family members (irrespective of inheritance of the BAV) is unclear, and little is known about aortic function. Hypothesis: Bicuspid aortic valve disease relatives show signs of inherited aortopathy despite having a tricuspid aortic valve. Methods: We prospectively enrolled 118 family members with a normal functioning tricuspid aortic valve and 55 age and sex-matched healthy volunteers. The average age was 38.7 years (range 6-90) with a mean pulse pressure 57±1.14 mmHg. Advanced aortic assessment included aortic diameters, pulse wave velocity, arterial stiffness, maximum rate of systolic dysfunction (MRSD) and distensibility by CMR, total peripheral resistance by Vicorder © as well as circulating matrix metalloproteinases (MMP) 2 and 9 from a peripheral blood sample. A subset of 10 family members also underwent comprehensive 4D flow CMR assessment. Results: Compared to sex, age and blood-pressure matched healthy volunteers all family members had normal aortic diameters at the sinuses, ascending and descending aorta. There were no differences between family members and healthy volunteers in any of the aortic function measures: pulse wave velocity (arch 5.9±0.79 vs 5.0±0.36 m/s; p=0.31), aortic strain (ascending aorta 0.16±0.03 vs 0.19±0.03; p=0.41), maximum rate of systolic dysfunction (ascending aorta 0.23 vs 0.22%/ms; p=0.61),distensibility (ascending aorta 4.0±0.65 vs 4.4±0.62 1/mmHg; p=0.65), total peripheral resistance (1.03±0.05 vs 1.06±0.04 pru; p=0.56), MMP2 and MMP9. In the subset of family members undergoing advanced 4D flow CMR assessment, there was no difference in flow angle (8.75±1.33 vs 7.75±0.78°; p=0.53), flow displacement (2.73±0.61 vs 2.44±0.24 mm; p= 0.67) and wall shear stress compared to healthy volunteers (0.69±0.07 vs 0.59±0.02 N/m 2 ; p=0.22). Conclusion: Family members with (normal) trileaflet aortic valves of patients with a bicuspid aortic valve have normal aortic size and function. This is a further indicator that in haemodynamic factors may be a larger contributor to the aortopathy in BAV disease than underlying genetic factors.