A 2-year-old female came to clinic for her first health supervision visit to the clinic. The past medical history was positive for otitis media twice and general upper respiratory illnesses. Her neonatal course was unremarkable. The father described the family history as positive for some type of heart problem where there was only two parts of the heart valve when there should be three. He had the problem and was asymptomatic, but his father had needed surgery for the same problem when he was around 70 years old. When asked if this was a bicuspid aortic valve, the father said he thought so but he wasn’t sure.
The pertinent physical exam revealed a precocious 2 year old with normal vital signs, including her blood pressure. Her cardiac examination showed a normal rate and rhythm with no murmurs and no neck bruits, along with good peripheral pulses in upper and lower extremities. The rest of her examination was normal.
The diagnosis of a healthy 2 year old was made. The parents said that her previous physician also felt she was normal, but that when she was old enough to not need sedation for an echocardiogram, that one should probably be done because of the family history. The physician agreed with this idea as the child was doing well with a normal physical examination. The physician helped parents to identify new primary care providers for them and asked for the father to send the last report from his previous doctor about his heart condition. “If this is a bicuspid aortic valve, it usually is okay, but it does need to be followed. As you see from your own father there can be problems with it. She may be able to do the echocardiogram in another year or so, but it will depend on if she can lie still. If she seems to be having any problems before then though, we always can do the test sooner,” he said.
The aortic valve usually has 3 leaflets. In bicuspid aortic valve (BAV) there are 2 asymmetric leaflets with a fish-mouthed orifice between them which may not open fully. It occurs in about 0.5-2% of the population making it one of the most common congenital heart anomalies and the most common one in adults. Transmission is autosomal dominant yet males are more likely to have BAV, indicating potential reduced penetrance in females. “BAVs are different, however, in that the tissue pathology is not limited to the valves’ leaflets but extends from the left ventricular outflow tract to the ascending thoracic aorta” and therefore can be associated with other congenital heart disease. With BAV, a murmur may be heard which classically is a grade 1-2/6 systolic ejection murmur best at the right upper sternal border associated with an early systolic click. BAV may not be clinically apparent though.
BAV is usually considered a benign condition as it may not cause any problems. However as patients age, BAV does have an increased risk of aortic valve stenosis (AVS) and/or aortic valve insufficiency (AVI), calcification of the leaflets, aortic root dilatation, aortic aneurysm, aortic dissection and can also be a nidus for infective endocarditis. AVS is associated with BAV in 70-85% of pediatric patients and about 50% of adult patients. AVS can cause left ventricular outlet obstruction with compensatory ventricular hypertrophy and potentially cause ischemia or ventricular failure. Congenital AVS usually presents in the neonatal period and is more severe and more progressive.
A 2014 prospective study of pediatric patients in a cardiology clinic (N=179, ages 2.7-11 years) identified with isolated BAV were followed for 5 years. This medium-term follow-up found that the clinical course was favorable or benign for almost all of the patients, with only 4 progressing to the point of needing intervention such as valve replacement or dilatation. Some other patients did have some progression to mild forms of AVS or AVI.
Patients with first degree relatives with BAV are recommended to be screened for BAV with an echocardiogram with attention being paid to the aorta because of the potential for associated aortic pathology.
Questions for Further Discussion
1. What are the most common cyanotic congenital heart diseases and when do they present? A review can be found here
2. What are causes of sudden cardiac and non-cardiac death in pediatric and adolescent patients? A review can be found here
3. What other valvular heart disease is common in children?
- Disease: Bicuspid Aortic Valve | Heart Valve Diseases | Congenital Heart Disease
- Symptom/Presentation: Health Maintenance and Disease Prevention
- Specialty: Cardiology / Cardiovascular-Thoracic Surgery
- Age: Toddler
To Learn More
To view pediatric review articles on this topic from the past year check PubMed.
Evidence-based medicine information on this topic can be found at SearchingPediatrics.com and the Cochrane Database of Systematic Reviews.
Bruckner BA, Reardon MJ. Bicuspid aortic valve and associated aortopathy: surgical considerations. Methodist DeBakey Cardiovasc J. 2010;6(1):29-32.
Eroglu AG, Atik SU, Cinar B, Bakar MT, Saltik IL. Echocardiographic Follow-Up of Congenital Aortic Valvular Stenosis II. Pediatr Cardiol. 2018;39(8):1547-1553. doi:10.1007/s00246-018-1928-2
Morosin M, Leonelli V, Piazza R, et al. Clinical and echocardiographic predictors of long-term outcome of a large cohort of patients with bicuspid aortic valve. J Cardiovasc Med Hagerstown Md. 2017;18(2):74-82. doi:10.2459/JCM.0000000000000430
Spaziani G, Ballo P, Favilli S, et al. Clinical outcome, valve dysfunction, and progressive aortic dilation in a pediatric population with isolated bicuspid aortic valve. Pediatr Cardiol. 2014;35(5):803-809. doi:10.1007/s00246-013-0856-4
Borger MA, Fedak PWM, Stephens EH, et al. The American Association for Thoracic Surgery consensus guidelines on bicuspid aortic valve – related aortopathy: Full online-only version. J Thorac Cardiovasc Surg. 2018;156(2):e41-e74. doi:10.1016/j.jtcvs.2018.02.115
Nishimura RA, Otto CM, Bonow RO, et al. 2014 AHA/ACC guideline for the management of patients with valvular heart disease: a report of the American College of Cardiology/American Heart Association Task Force on Practice Guidelines. J Thorac Cardiovasc Surg. 2014;148(1):e1-e132. doi:10.1016/j.jtcvs.2014.05.014
Aortic Valve Disease 1; AOVD1. Number 109730. Online Mendelian Inheritance in Man. https://www.omim.org/entry/109730. Updated 7/9/19, cited 10/15/19.
Donna M. D’Alessandro, MD
Professor of Pediatrics, University of Iowa