Epidemiology of Bicuspid Aortic Valve
Bicuspid aortic valve (BAV) is the most common congenital cardiac malformation, affecting 0.5-2% of the general population, with a strong male predominance. 1
Population Prevalence
- BAV occurs in 1-2% of live births, making it the most frequent congenital abnormality affecting the aortic valve and aorta 1, 2, 3, 4, 5
- The most recent European guidelines (2024) cite a prevalence range of 0.5-2%, reflecting the most current epidemiologic data 1
- Males are affected approximately 2-3 times more frequently than females 2
Familial Clustering and Inheritance
- 9% of BAV patients have first-degree relatives who also have bicuspid aortic valves, indicating significant familial clustering 1
- BAV can be inherited as an autosomal dominant condition in some families, though no single-gene model explains the majority of cases 1
- Several genes implicated in embryogenesis and cell differentiation have been associated with BAV, but each identified gene accounts for less than 5% of cases 1
Associated Cardiovascular Malformations
While often considered "isolated," BAV frequently occurs with other cardiovascular abnormalities:
- Aortic coarctation occurs in 4.2-11.8% of BAV patients 6
- Coronary anomalies are present in 3.6-3.7% of cases 6
- Patent ductus arteriosus occurs in approximately 3.3% 6
- Ventricular septal defects are found in 0.5-5.9% 6
- Mitral valve prolapse occurs in 1.5-1.6% 6
Aortopathy Prevalence
- Aneurysm prevalence reaches 40% in clinical series and 0.85 per 100 patient-years in population studies 1
- In surgical series, 20% of BAV patients undergoing valve surgery had concurrent ascending aortic aneurysms requiring repair 1
- 50% of pediatric BAV patients demonstrate ascending aorta dilatation, with 4% having severe dilatation 4
Aortic Dissection Risk
- As many as 15% of patients with acute aortic dissection have bicuspid aortic valves, a frequency higher than Marfan syndrome 1
- Aortic dissection occurred in 12.5% of BAV patients with aortic diameter less than 5 cm, similar to rates seen in Marfan syndrome 1
- Acute aortic events are 8-10 fold more frequent in BAV patients compared to the general population 1
Age-Related Valve Dysfunction
- 40% of women and approximately one-third of men over age 70 undergoing aortic valve replacement have BAV disease as the underlying pathology 1
- Younger patients more commonly present with aortic regurgitation, while older patients more frequently develop aortic stenosis 1
- BAV accounts for less than 4% of sudden cardiac deaths in young athletes, though it is a recognized cause of exertion-related sudden death 1
Lifetime Morbidity Burden
- Recent follow-up data shows a total lifetime morbidity burden as high as 86% in BAV patients, predominantly driven by valve-related complications including aortic stenosis 1