Pediatric Supravalvar Aortic Stenosis Clinical Presentation

  • Author: Anita Krishnan, MD; more...
 
Updated: Mar 29, 2011
 

History

Symptoms caused by SVAS usually develop in childhood. Rarely, symptoms develop in infancy; in some cases, symptoms develop in the second or third decade of life.

Most pediatric patients present because of a heart murmur or the features of Williams syndrome. Patients with Williams syndrome may also develop systemic hypertension and involvement of joints, peripheral pulmonary artery stenosis, coarctation of aorta, and mitral insufficiency.

Dyspnea on exertion, angina, and syncope develop in the course of the disease if SVAS is untreated. These symptoms indicate at least a moderate degree of LVOT obstruction. Because of the coronary artery involvement, angina may arise early and more often than in other obstructive LVOT lesions. Because of the risk of sudden death in SVAS, the development of angina and syncope should prompt immediate investigation.

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Physical Examination

The physical examination focuses on upper extremity pulses, the precordium, heart sounds, and heart murmurs.

Asymmetrical upper extremities pulses

Discrepancies between carotid pulsations and upper extremity pulses and blood pressure are the characteristic clinical findings in SVAS. The discrepancies occur because the jet of blood flow from SVAS has a preferential trajectory into the brachiocephalic (innominate) artery (ie, Coanda effect).

Precordium

The precordium is usually hyperdynamic, and the apex of the heart is displaced laterally and inferiorly because of ventricular hypertrophy. A thrill in the suprasternal notch is usually felt because of the trajectory of the blood flow jet from SVAS.

Heart sounds

The first heart sound is generally normal. A narrowly split, single, or paradoxically split second heart sound and a fourth heart sound are present in severe SVAS.

Heart murmurs

The characteristic systolic murmur of SVAS is crescendo-decrescendo in shape, low pitched, and best heard at the base of the heart, sited higher than in valvular aortic stenosis. It mainly radiates to the right carotid artery and tends to peak during the last two thirds of ventricular systole if the obstruction is severe.

A high-pitched, short, early diastolic aortic regurgitation murmur is uncommon in SVAS, and an ejection click is absent.

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Contributor Information and Disclosures
Author

Anita Krishnan, MD  Assistant Professor of Pediatrics, George Washington University School of Medicine; Attending Physician, Division of Cardiology, Children's National Medical Center

Disclosure: Nothing to disclose.

Coauthor(s)

Gautam K Singh, MD, DCh, MRCP  Associate Professor of Pediatrics, Division of Cardiology, Director of Noninvasive Imaging Research, Co-Director of Echocardiography Laboratory, Washington University in St Louis School of Medicine; Attending Faculty, Department of Pediatrics, Division of Cardiology, St Louis Children's Hospital

Gautam K Singh, MD, DCh, MRCP is a member of the following medical societies: American College of Cardiology, American Heart Association, American Society of Echocardiography, and Royal College of Physicians

Disclosure: Nothing to disclose.

Specialty Editor Board

Charles I Berul, MD  Professor of Pediatrics and Integrative Systems Biology, George Washington University School of Medicine; Chief, Division of Cardiology, Children's National Medical Center

Charles I Berul, MD is a member of the following medical societies: American Academy of Pediatrics, American College of Cardiology, American Heart Association, Cardiac Electrophysiology Society, Heart Rhythm Society, Pediatric and Congenital Electrophysiology Society, and Society for Pediatric Research

Disclosure: Johnson & Johnson Consulting fee Consulting

Mary L Windle, PharmD  Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

John W Moore, MD, MPH  Professor of Clinical Pediatrics, Section of Pediatric Cardiology, Department of Pediatrics, University of California San Diego School of Medicine; Director of Cardiology, Rady Children's Hospital

John W Moore, MD, MPH is a member of the following medical societies: American Academy of Pediatrics, American College of Cardiology, and Society for Cardiac Angiography and Interventions

Disclosure: Nothing to disclose.

References

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Two-dimensional suprasternal echocardiographic image of supravalvar aortic stenosis.
Aortogram of a patient with supravalvar aortic stenosis and dilated sinus of Valsalva.
 
 
 
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