Sopek Merkaš Ivana, Lakušić Nenad, Predrijevac Mladen, Štambuk Krešimir, Hrabak Paar Maja
Department of Cardiology, Special Hospital for Medical Rehabilitation Krapinske Toplice, Krapinske Toplice 49217, Croatia.
Department of Clinical Medicine, Faculty of Dental Medicine and Health Osijek, J. J. Strossmayer University of Osijek, Osijek 31000, Croatia.
World J Clin Cases. 2023 Jun 26;11(18):4251-4257. doi: 10.12998/wjcc.v11.i18.4251.
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.
在普通人群中，二叶式主动脉瓣的患病率为0.5%至2%，男性患病率占75%，是最常见的先天性心脏缺陷。它常伴有其他心脏先天性异常，临床表现差异很大，狭窄是最常见的表现，常导致左心室轻度至中度向心性肥厚。超声心动图是用于确诊的主要诊断方法，也是临床医生常依赖的唯一诊断工具。然而，由于临床表现的异质性以及可能存在的相关异常（在临床实践中常被忽视），如果存在多种不一致情况，就需要采用多种诊断方法并持续寻找准确诊断。通过采用这种方法，我们可以有效地管理这些患者并为他们提供适当的治疗。通过我们临床实践中的一个病例，我们概述了有关二叶式主动脉瓣伴主动脉病变以及与肥厚型心肌病可能关联的文献、诊断方法和治疗选择。这篇综述文章强调了对二叶式主动脉瓣伴显著左心室肥厚患者进行准确诊断的关键意义。排除左心室流出道梗阻的其他可能原因，如主动脉瓣下或瓣上梗阻以及肥厚型心肌病，至关重要。
