Bicuspid aortic valve with associated aortopathy, significant left ventricular hypertrophy or concomitant hypertrophic cardiomyopathy: A diagnostic and therapeutic challenge

Abstract

Due to its prevalence of 0.5% to 2% in the general population, with a 75% predominance among men, bicuspid aortic valve is the most common congenital heart defect. It is frequently accompanied by other cardiac congenital anomalies, and clinical presentation can vary significantly, with stenosis being the most common manifestation, often resulting in mild to moderate concentric hypertrophy of the left ventricle. Echocardiography is the primary diagnostic modality utilized for establishing the diagnosis, and it is often the sole diagnostic tool relied upon by clinicians. However, due to the heterogeneous clinical presentation and possible associated anomalies (which are often overlooked in clinical practice), it is necessary to employ various diagnostic methods and persist in finding the accurate diagnosis if multiple inconsistencies exist. By employing this approach, we can effectively manage these patients and provide them with appropriate treatment. Through a clinical case from our practice, we provide an overview of the literature on bicuspid aortic valve with aortophaty and the possible association with hypertrophic cardiomyopathy, diagnostic methods, and treatment options. This review article highlights the critical significance of achieving an accurate diagnosis in patients with bicuspid aortic valve and significant left ventricular hypertrophy. It is crucial to exclude other possible causes of left ventricular outflow tract obstruction, such as sub- or supra-aortic obstructions, and hypertrophic cardiomyopathy.

Keywords: Bicuspid aortic valve; Left ventricular hypertrophy; Left ventricular tract obstruction; Hypertrophic cardiomyopathy; Aortopathy; Multimodal imaging

Core Tip: Bicuspid aortic valve accompanied by significant left ventricular hypertrophy, with echocardiographic parameters suggesting possible obstruction of the left ventricular output tract, requires additional diagnostic workup to exclude obstruction other than at the aortic valve level, as well as possible associated hypertrophic cardiomyopathy. A multidisciplinary approach in the heart team and the utilization of multimodal imaging are imperative for the accurate diagnosis and appropriate management of such patients.