Prevalence and Sub Clinical Detection of Concomitant Dilated Cardiomyopathy in Subjects with Bicuspid Aortic Valves

Abstract

This Abstract is “accepted at 36th Echo Conference on March 27, 2020 Chicago, IL, USA Elkilany GEN “
Introduction: Bicuspid aortic valve (BAV) is the most common cause of heart disease present at birth and affects approximately 1.3% of adults. BAV is a highly heritable trait, often associated with other congenital heart defects or genetic syndromes. Most previous studies have focused on subclinical left ventricular dysfunction associated with aortic valve disease. Although a possible association between BAV and dilated cardiomyopathy (DCM) is still lacking.
Purpose: The present study aimed to investigate the prevalence and clinical significance of concomitant DCM in subjects with bicuspid aortic valve. Materials and Methods: A total of 112 subjects (82 males, mean age 46±14 years) were comprehensively reviewed. Dilated cardiomyopathy were confirmed 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 dilated cardiomyopathy were compared.
Results: In the current study, we described 2 families with DCM associated with congenital abnormalities-BAV whom carry a novel missense mutation in the VCL gene. Overall, 2 subjects (1.8 %) had concomitant DCM. The echocardiographic variables, including left ventricle dimension, wall thickness, and LVEF, global longitudinal systolic strain (GLS) were significantly different among the groups because of their own disease characteristics(p<0.001). LA volume index values in BAV subgroups with DCM were significantly greater than those in the BAV group without cardiomyopathy. Early diastolic mitral annular tissue (e’) velocity and ratio of early diastolic mitral inflow velocity to e’ velocity (E/e’) in BAV subgroups with DCM were also significantly greater than those in BAV subgroups without DCM. Furthermore, BAV subjects with dilated cardiomyopathy showed higher prevalence of heart failure with reduced ejection fraction. In multiple regression analysis, cardiomyopathy was independently associated with heart failure (odds ratio 2.75, 95% confidential interval 1.600– 4.783, p<0.001) after controlling for confounding factors.
Conclusion: Concomitant dilated cardiomyopathy were observed in 1.8% of subjects with BAV. A few different clinical and echocardiographic characteristics were found. The presence of cardiomyopathy was independently associated with heart failure either clinically or at the sub clinical stage evident by global systolic strain. Second, the implications of cardiac ultrasound with GLS is a must for early detection and proper management of DCM patients accompanied with BAV