Bicuspid aortic valve and ascending aortic aneurysm – genetic background of the disease

摘要

Introduction Bicuspid aortic valve (BAV) is the most common congenital heart disease. Its incidence in the general population is estimated at 1-2% [1, 2]. There are 3 anatomical types of BAV: with a fusion of the right and left coronary leaflet responsible for 74% of all cases; with a fusion of the right and non-coronary leaflet (24%); and most rarely with a fusion of the left and non-coronary leaflet (2%) [3]. The consequence of BAV is its stenosis and/or regurgitation and the increased risk of infective endocarditis. The defect is often accompanied by an ascending aortic aneurysm. Other congenital heart diseases co-existing with BAV are coarctation of the aorta, interruption of the aortic arch, ventricular septal defect (VSD), patent ductus arteriosus (PDA) and atrial septal defect (ASD) [1, 2, 4]. Inheritance of the disease has been demonstrated. The defect is three times more common in men than in women [1]. Below we present a case of a 27-year-old man with significant regurgitation and moderate stenosis of the bicuspid aortic valve and ascending aortic aneurysm (thoracic aortic aneurysm disease – TAAD). Case report At the age of 18 the heart murmur was detected and after echocardiographic examination the patient was diagnosed with aortic regurgitation. He was referred to the Department of Adult Congenital Heart Diseases of the Institute of Cardiology. At that time he was diagnosed with significant regurgitation and mild BAV stenosis (maximal aortic gradient – GA max 42 mm Hg, GA mean 30 mm Hg). Because of the lack of symptoms and moderately dilated left ventricle (left ventricular end diastolic diameter [LVEDd] 65 mm) with its preserved systolic function (ejection fraction [EF] 73%) and borderline diameter of the ascending aorta (38 mm) a decision was made to continue observation. Over the next 7 years the patient remained under the care of the Adult Congenital Heart Diseases Outpatient Clinic, where a gradual increase of the aortic valve gradient was observed (GA max from 42 mm Hg to 72 mm Hg, GA mean from 30 mm Hg to 40?mmHg) accompanied by dilation of the left ventricle (from 65 mm to 70 mm) and its progressive systolic dysfunction (EF drop from 73% to 60%) with enlarged ascending aorta (from 38 mm to 46 mm) (Table 1). At the age of 25 the patient noticed worsening of exercise tolerance. Echocardiographic examination demonstrated significant dilation of the left ventricle (LVEDd 70... View full text...