eMedicine Specialties > Pediatrics: Cardiac Disease and Critical Care Medicine > Cardiology

Aortic Valve, Bicuspid: Differential Diagnoses & Workup

Author: Edward J Bayne, MD, Assistant Professor, Division of Pediatric Cardiology, Emory University School of Medicine; Consulting Staff, Sibley Heart Center Cardiology, Children's Healthcare of Atlanta
Contributor Information and Disclosures

Updated: Nov 13, 2009

Differential Diagnoses

Aortic Stenosis, Subaortic
Mitral Valve Prolapse
Aortic Stenosis, Supravalvar
Pulmonary Stenosis, Valvar
Aortic Stenosis, Valvar
Rheumatic Heart Disease
Aortic Valve Insufficiency
Turner Syndrome
Coarctation of the Aorta
Ventricular Septal Defect, General Concepts
Ebstein Anomaly
Williams Syndrome
Interrupted Aortic Arch

Workup

Laboratory Studies

In the case of a child with bicuspid aortic valve and family history of hypercholesterolemia or early coronary artery disease, baseline cholesterol levels may be helpful in recommending dietary modification.

  • Total and high-density lipoprotein (HDL) cholesterol or fasting lipid panel should be measured in children older than 3 years.
  • Elevated low-density lipoprotein (LDL) cholesterol may accelerate sclerosis of the bicuspid aortic valve.20

Imaging Studies

  • Chest radiography may reveal mild prominence of the ascending aorta in the posteroanterior projection along the superior right heart border. Left ventricular enlargement implies progressive aortic valve insufficiency. Chest radiography is generally not helpful as a screening tool for bicuspid aortic valve.
  • Two-dimensional echocardiography provides accurate confirmation of a bicuspid aortic valve.29

  • Two-dimensional echocardiogram of typical bicuspi...

    Two-dimensional echocardiogram of typical bicuspid aortic valve in diastole and systole. Valve margins are thin and pliable and open widely, creating the fishmouth appearance.

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    Two-dimensional echocardiogram of typical bicuspi...

    Two-dimensional echocardiogram of typical bicuspid aortic valve in diastole and systole. Valve margins are thin and pliable and open widely, creating the fishmouth appearance.


    • Imaging can show the bicuspid aortic valve in multiple planes. Most important information is obtained from the parasternal long-axis and short-axis views.
    • The long-axis view reveals the typical systolic doming due to limited valve opening. An approximation of valve orifice diameter can be obtained at peak systole. This view is also important for sizing the sinus of Valsalva, sinotubular junction, and ascending aorta.

    • Parasternal long-axis echocardiogram showing domi...

      Parasternal long-axis echocardiogram showing doming of a bicuspid aortic valve.

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      Parasternal long-axis echocardiogram showing domi...

      Parasternal long-axis echocardiogram showing doming of a bicuspid aortic valve.

    • The short-axis view is used to examine commissures, leaflet morphology, mobility, and the presence or absence of a low raphe. The diameter or area of the valve opening is generally overestimated in this view because the true orifice usually lies above this plane. The bicuspid valve typically looks like a fish's mouth on opening.

    • Parasternal short-axis echocardiographic view in ...

      Parasternal short-axis echocardiographic view in diastole, showing bicuspid aortic valve with nearly equal cusp size and right-left orientation of the commissure. Note the 2 color signals showing minimal aortic insufficiency.

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      Parasternal short-axis echocardiographic view in ...

      Parasternal short-axis echocardiographic view in diastole, showing bicuspid aortic valve with nearly equal cusp size and right-left orientation of the commissure. Note the 2 color signals showing minimal aortic insufficiency.

    • Doppler measurements of peak and mean systolic velocities and gradients can be recorded from the apical 5-chamber, the suprasternal, or the high right parasternal views. Doppler signal should be lined up as closely as possible and parallel to the jet to provide accurate estimates of flow velocities. Estimates of flow velocity from the apical view can sometimes be improved by moving the transducer more medially toward the sternum.
    • Parasternal long-axis and short-axis views can also be used for color Doppler studies, which evaluate for aortic insufficiency. The severity of aortic valve insufficiency can be assessed by several methods. One of the simplest and most reliable is to measure the insufficiency jet diameter at the aortic valve annulus and compare this diameter to the annulus diameter.
    • False-positive diagnosis of bicuspid aortic valve may arise from incomplete demonstration of all 3-valve closure lines. The typical normal (trileaflet) aortic valve shows a rotated Mercedes sign on closure. The bicuspid valve may not be recognized if a high raphe is observed with valve closure.
  • Angiography30
    • The bicuspid aortic valve is viewed best in the anteroposterior 30 º right anterior oblique (RAO) projection. Injection is into the left ventricle and also into the aortic root.
    • Angiography is not the primary diagnostic method to diagnose a bicuspid aortic valve.
    • Typical finding is systolic doming of the valve margins due to incomplete opening.
    • Aortic insufficiency can be looked for on the aortic root injection.
  • MRI: MRI is generally not helpful for the diagnosis of bicuspid aortic valve alone but may be helpful for complete assessment of the thoracic aorta, particularly in cases of coarctation, Turner syndrome, or Williams syndrome.
  • Transesophageal echocardiography may be necessary to define valve commissures and vegetations in adolescents or young adults in whom bicuspid aortic valve is suspected on clinical grounds (particularly those with symptoms or findings that suggest infective endocarditis).29

Other Tests

  • Electrocardiography
    • ECG findings are generally normal for an isolated bicuspid aortic valve without stenosis or insufficiency.
    • Progression of stenosis or insufficiency leads to left atrial enlargement and left ventricular hypertrophy.
  • Testing in family members
    • Two-dimensional echocardiography is recommended as a screening tool for the offspring and first-degree relatives (especially males) of patients identified as having a bicuspid aortic valve because a high recurrence rate (as much as 12-17%) has been shown in several families.31

More on Aortic Valve, Bicuspid

Overview: Aortic Valve, Bicuspid
Differential Diagnoses & Workup: Aortic Valve, Bicuspid
Treatment & Medication: Aortic Valve, Bicuspid
Follow-up: Aortic Valve, Bicuspid
Multimedia: Aortic Valve, Bicuspid
References
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References

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Further Reading

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Keywords

bicuspid valve, bicuspid aortic valve, bicommissural aortic valve, rheumatic fever, truncus arteriosus, coarctation of the aorta, interrupted aortic arch, Marfan syndrome, aortic insufficiency, hypoplastic left heart syndrome, patent ductus arteriosus, Turner syndrome, short stature, Williams syndrome

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Contributor Information and Disclosures

Author

Edward J Bayne, MD, Assistant Professor, Division of Pediatric Cardiology, Emory University School of Medicine; Consulting Staff, Sibley Heart Center Cardiology, Children's Healthcare of Atlanta
Edward J Bayne, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Pediatrics, American College of Cardiology, American Heart Association, and American Society of Echocardiography
Disclosure: Nothing to disclose.

Medical Editor

Paul M Seib, MD, Associate Professor of Pediatrics, University of Arkansas for Medical Sciences; Medical Director, Cardiac Catheterization Laboratory, Co-Medical Director, Cardiovascular Intensive Care Unit, Arkansas Children's Hospital
Paul M Seib, MD is a member of the following medical societies: American Academy of Pediatrics, American College of Cardiology, American Heart Association, Arkansas Medical Society, International Society for Heart and Lung Transplantation, and Society for Cardiac Angiography and Interventions
Disclosure: Nothing to disclose.

Pharmacy Editor

Mary L Windle, PharmD, Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy, Pharmacy Editor, eMedicine
Disclosure: Nothing to disclose.

Managing Editor

Alvin J Chin, MD, Professor of Pediatrics, Division of Cardiology, The Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine
Alvin J Chin, MD is a member of the following medical societies: American Association for the Advancement of Science and American Heart Association
Disclosure: Nothing to disclose.

CME Editor

Gilbert Z Herzberg, MD, Assistant Professor, Department of Pediatrics, Section of Pediatric Cardiology, New York Medical College; Consulting Staff, Department of Pediatrics, Sound Shore Medical Center
Gilbert Z Herzberg, MD is a member of the following medical societies: American Academy of Pediatrics
Disclosure: Nothing to disclose.

Chief Editor

Steven R Neish, MD, SM, Director of Pediatric Cardiology Fellowship Program, Associate Professor, Department of Pediatrics, Baylor College of Medicine
Steven R Neish, MD, SM is a member of the following medical societies: American Academy of Pediatrics, American College of Cardiology, and American Heart Association
Disclosure: Nothing to disclose.

 
 
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