Clinical characteristics and management of coexistent cardiomyopathy in patients with bicuspid aortic valve

BACKGROUND Bicuspid aortic valve（BAV） is the most common congenital heart disease. However, the prevalence, clinical characteristics, and current management of BAV associated with inherited cardiomyopathy, including hypertrophic cardiomyopathy（HCM）, dilated cardiomyopathy（DCM）, and left ventricular noncompaction（LVNC） have not been well described.METHODS Consecutive patients diagnosed with BAV at a large tertiary cardiovascular referral center between 2009 and 2018were retrospectively assessed for HCM, DCM, and LVNC based on clinical and echocardiographic criteria. Patients with coexistent conditions were investigated further.RESULTS Of 3533 patients with BAV screened, 57（1.6%） had concomitant cardiomyopathy. BAV was combined with HCM in30 of these patients, with DCM in 19, and with LVNC in eight. Forty-six patients（80.7%） were male, and the mean age at first diagnosis was 47 years for BAV with HCM, 49 years for BAV with DCM, and 35 years for BAV with LVNC. Heart failure and aortic valve dysfunction were common in these patients, and the prevalence of coexisting aortopathy was 43.3%, 26.3% and 25.0%, respectively, for BAV with HCM, DCM and LVNC. During the index hospitalization, 24 of the 57 patients（42.1%） underwent surgery, 16（28%） underwent aortic valve and/or aortic surgery, and 16 of the 30 patients with HCM had a Morrow procedure. There were no deaths or other major adverse cardiovascular events.CONCLUSIONS The prevalence of inherited cardiomyopathy was higher in our patients with BAV than in the general population. Aortopathy and heart failure were common, with almost half of patients requiring surgery at diagnosis.