Prevalence, characteristics, and clinical significance of concomitant cardiomyopathies in subjects with bicuspid aortic valve

Background In this study, the prevalence, characteristics, and clinical significance of concomitant specific cardiomyopathies were investigated in subjects with bicuspid aortic valve (BAV). Methods We retrospectively evaluated 1,186 adults with BAV (850 males, mean age 56 ± 14 years). Left ventricular non-compaction, hypertrophic cardiomyopathy, and idiopathic dilated cardiomyopathy were diagnosed when patients fulfilled current clinical and echocardiographic criteria. Clinical and echocardiographic characteristics including comorbidities, heart failure presentation, BAV morphology, function, and aorta phenotypes in BAV subjects with or without specific cardiomyopathies were compared. Results Overall, 67 subjects (5.6 %) had concomitant cardiomyopathies: 40 (3.4%) patients with left ventricular non-compaction, 17 (1.4%) with hypertrophic cardiomyopathy, and 10 (0.8%) with dilated cardiomyopathy. BAV subjects with hypertrophic cardiomyopathy had a higher prevalence of diabetes mellitus, heart failure with preserved ejection fraction, and tended to have type 0 phenotype, while BAV subjects with dilated cardiomyopathy showed a higher prevalence of chronic kidney disease and heart failure with reduced ejection fraction. BAV subjects with left ventricular non-compaction were significantly younger, predominantly male, and had greater BAV dysfunction and a higher prevalence of normal aorta shape. In multiple regression analysis, presence of cardiomyopathy was independently associated with heart failure (odds ratio 2.866, 95% confidential interval 1.652–4.974, p < 0.001) even after controlling confounding factors. Conclusion Concomitant cardiomyopathies were observed in 5.6% of subjects with BAV. A few clinical and echocardiographic characteristics including comorbidities, heart failure presentation, BAV morphology, function, and presence of aortopathy were found. The presence of cardiomyopathy was independently associated with heart failure.