Most Common Adult Congenital Heart Disease
Bicuspid aortic valve (BAV) is the most common congenital heart disease in adults. 1, 2
Epidemiology and Prevalence
BAV has an estimated prevalence of 4.6 per 1,000 live births (approximately 1-2% of the population) and is 1.5 times more prevalent in males than females. 1, 3
While ventricular septal defect (VSD) is the most common congenital heart defect at birth (3.0-3.5 per 1,000 live births), many VSDs close spontaneously during childhood, making BAV the predominant congenital anomaly in adults. 4, 2
Atrial septal defect (ASD), particularly secundum type, is the second most common congenital heart defect in adults, representing 60-70% of all ASD cases. 2
Clinical Significance in Adults
BAV often remains asymptomatic until the fifth to seventh decade of life, though complications can manifest earlier. 1
More than 50% of patients with BAV will require aortic valve replacement during their lifetime, and more than 25% will need aortic surgery for dilation of the aortic root or ascending aorta. 5
The disease affects both the valve and the aorta, with ascending aortic aneurysm and dissection being associated complications even when the valve functions normally. 1
Associated Conditions
BAV is present in 50-70% of patients with coarctation of the aorta, making evaluation for coarctation essential in all BAV patients. 1
First-degree relatives of patients with BAV have a 9% prevalence of asymptomatic BAV on echocardiographic screening, warranting family screening. 1
Other associated lesions include subaortic stenosis, parachute mitral valve, VSD, patent ductus arteriosus, and varying degrees of arch hypoplasia. 1
Clinical Pitfalls
Despite being the most common congenital anomaly, approximately 10% of patients with common congenital heart defects survive undetected until adulthood, emphasizing the need for vigilance in adult populations. 4, 2
Aortic dissection can occur at smaller aortic diameters in BAV patients (mean 5.1 cm) compared to tricuspid valves, with surgical intervention reasonable when the ascending aorta reaches 4.5 cm at experienced centers. 1
Life expectancy in adults with BAV is not shortened compared to the general population when appropriately managed, but lifelong surveillance is required. 3