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

Aortic Stenosis, Valvar

Author: Howard S Weber, MD, FAAP, FACC, FSCAI, Professor, Assistant Chief, Section of Pediatric Cardiology, Penn State University School of Medicine; Director, Pediatric Catheterization Laboratory, Milton S Hershey Medical Center
Coauthor(s): 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
Contributor Information and Disclosures

Updated: Nov 10, 2008

Introduction

Background

Congenital heart disease occurs in 8 of 1000 live births. Aortic valve stenosis results from minor to severe degrees of aortic valve maldevelopment. This stenosis causes mild to severe obstruction of left ventricular outflow that may be associated with other left heart obstructive lesions or extracardiac malformations, including genetic disorders. This article focuses on presentation, clinical features, and therapeutic options associated with aortic valve stenosis.

Pathophysiology

Pure aortic valve stenosis results in compensatory ventricular hypertrophy proportional to the degree of obstruction. Mild degrees of obstruction are usually well tolerated, with minimal hypertrophy and normal left ventricular function. As stenosis progresses, often in association with periods of rapid somatic growth, hypertrophy increases and reduces wall stress. With severe hypertrophy and valvar obstruction, myocardial ischemia may result from the combination of limited cardiac output, reduced coronary perfusion, and increased myocardial oxygen consumption. Fibrosis may occur in areas of the myocardium damaged by ischemia.

Infants with severe obstruction in utero lead to variable degrees of left heart hypoplasia and endomyocardial fibroelastosis, causing reduced ventricular function. A small, fixed cross-sectional area of the aortic valve can limit the ability to increase cardiac output with exercise. This may result in exercise-induced syncope or sudden death.

Development of significant aortic insufficiency in the absence of stenosis is less common and may result in ventricular dilation. Rarely, left ventricular dysfunction and symptomatic congestive heart failure occur unless stenosis is reduced, insufficiency is relieved, or both.

Frequency

United States

Aortic valve stenosis accounts for 3-5% of all congenital heart defects. Authorities estimate a bicuspid aortic valve is present in as many as 1% of the general population, although accurate figures regarding prevalence of this abnormality are difficult to obtain because many cases remain undetected despite clinical examination and these valves function well for many decades.

International

The incidence of aortic valve stenosis is fairly consistent in most studies reported from around the world.

Mortality/Morbidity

Mortality is higher in patients presenting with severe or critical aortic valve stenosis during the first year of life, specifically in the neonatal period. Mortality is in part influenced by associated congenital cardiac anomalies, which occur in as many as 20% of patients. These include patent ductus arteriosus, coarctation of aorta, ventricular septal defect, mitral valve abnormalities, and left ventricular hypoplasia. Undetected, severe aortic valve stenosis is a known cause of sudden death and accounts for approximately 1% of all causes of sudden death in young people.

Race

Some studies have documented a higher prevalence in white children than in black and Hispanic children.

Sex

There is a strong male sex predilection: the male-to-female ratio is 4:1.

Age

An estimated 10-15% of patients with aortic valve stenosis present with the condition when they are younger than 1 year. The remainder of patients present later in childhood or in adulthood. Adult patients with bicuspid aortic valves may develop significant stenosis or insufficiency only after they develop valve calcification in the fourth, fifth, or sixth decade of life. Bicuspid aortic valves without stenosis or insufficiency in adult patients can be associated with progressive pathologic enlargement of the aortic root of uncertain etiology, which infrequently leads to surgical aortic root replacement.

Clinical

History

Presentations of aortic valve stenosis vary, ranging from critical aortic stenosis in neonates to no symptoms in children who have only a systolic ejection click upon physical examination, either with or without a murmur to suggest aortic stenosis. Rarely, aortic valve stenosis causes sudden death during exercise or can present later in life from calcific aortic stenosis. Consider the presentation of aortic valve stenosis in the neonatal period, childhood, and in adolescent or adult patients.

  • Neonatal aortic valve stenosis
    • Neonatal aortic valve stenosis may present as congestive heart failure in the first week of life. Once the ductus arteriosus begins to close, clinical signs of heart failure occur that mimic sepsis, and a cardiac murmur may be unimpressive in the setting of low cardiac output. Significant mitral valve insufficiency may add to the congestive heart failure symptoms. Patients with this presentation often require emergency resuscitation, including the administration of prostaglandin E1, if the patient presents within the first few days of life, to reestablish patency of the ductus arteriosus and adequate systemic blood flow.
    • Often, neonates with aortic stenosis are asymptomatic but present with a systolic murmur, which leads to cardiology referral. Subsequent progression of aortic valve stenosis can widely vary in rapidity and degree of stenosis. Yetman et al (1995) have described patients in whom rapid progression occurs within 6 months of diagnosis.1 These patients often have well-preserved ventricular function but, during rapid growth, can exhibit fairly dramatic increases in the aortic valve gradient, requiring intervention. The absence of symptoms, which in fact may be difficult to discern in this age group, does not correlate with the severity of aortic valve obstruction.
  • Childhood aortic valve stenosis
    • Older children most often present with a systolic murmur as the first sign of aortic valve stenosis. These children are usually asymptomatic and have a systolic murmur or systolic ejection click detected during a sports physical or at a preschool entrance examination. If symptoms occur, a sense of easy fatigability may be reported. A history of syncope or anginal-type chest pain related to exertion should prompt an immediate evaluation and intervention by a pediatric cardiologist. Most often, these patients have pure aortic valve stenosis, although, occasionally, a patient presents with predominantly aortic valve insufficiency and minimal stenosis.
    • Another group of patients monitored through childhood are those who have undergone previous intervention in the neonatal period and have stable degrees of palliated aortic valve stenosis, insufficiency, or both. Detection of symptoms on the basis of history alone is often misleading because exercise tolerance is often well preserved until aortic stenosis becomes more severe. Careful questioning with regard to exercise tolerance, levels of activity, avoidance of strenuous activities, and the presence of dyspnea, chest pain, presyncope, or excessive nap taking may reveal subtle signs of progressive aortic valve stenosis.
  • Adolescent or adult aortic valve stenosis: Adolescents and adults diagnosed for the first time with aortic valve stenosis often have a bicuspid aortic valve with mild degrees of stenosis or insufficiency. Many of these patients remain free of symptoms or problems for many years unless endocarditis occurs or valve calcification develops. Some of these patients have had prior intervention for aortic stenosis that was more severe at a younger age and have undergone either surgical or balloon valvotomy for palliation. In rare cases, a bicuspid aortic valve without stenosis or insufficiency presents as pathologic aortic root dilation resulting in spontaneous dissection.

Physical

  • Neonatal aortic valve stenosis
    • Neonates who present with critical aortic stenosis and low cardiac output have reduced or absent pulses and poor peripheral perfusion. They are tachycardiac and tachypneic, may have significantly increased work of breathing, and appear distressed.
    • A systolic murmur may be unimpressive because of low cardiac output secondary to left ventricular dysfunction. A precordial thrill is somewhat rare in the neonate. A click may be heard, although this is often difficult to discern because the degree of tachycardia and poor excursion of the valve may make the click less noticeable. The peripheral pulses are usually low volume and are reduced symmetrically, unlike the differential pulses that are present in the setting of critical coarctation of the aorta.
    • Severe aortic valve insufficiency in the neonatal period is rare; however, if it is present, consider the diagnosis of an aortic–left ventricular tunnel.
  • Childhood aortic valve stenosis
    • A systolic ejection murmur is present at the left middle and the right upper sternal border.
    • A thrill in the suprasternal notch is common even with modest levels of aortic valve stenosis and helps localize pathology to the aortic valve. An ejection click is noted along the aortic axis and often is audible at the apex when it is not heard elsewhere. A precordial thrill is less common but, when present, is usually indicative of severe aortic valve stenosis.
    • The apical impulse may be normal or increased in intensity. As with other semilunar valve pathologies, the severity of obstruction is proportional to the length and grade of the systolic murmur, assuming normal ventricular function and cardiac output.
    • A fourth heart sound, when present, usually indicates significant left ventricular hypertrophy.
    • The peripheral pulses may be normal or reduced, depending on the degree of obstruction. Bounding pulses (water-hammer pulses) indicate significant aortic valve insufficiency.
  • Adolescent or adult aortic valve stenosis
    • Aortic valve stenosis in adolescents and adults is similar to that seen in children, although older patients are more likely to have aortic valve insufficiency. A systolic ejection click is sometimes less noticeable with associated calcification of the aortic valve, which results in diminished valve excursion.
    • Maneuvers to improve auscultation include having larger patients lean forward or assume the left lateral decubitus position. Having the patient squat may accentuate murmur of aortic insufficiency.

Causes

Causes of aortic valve stenosis are multifactorial, although studies suggest a higher rate of recurrence of left ventricular outflow tract obstructive lesions than other forms of congenital heart disease. The recurrence risk in offspring of an affected father is approximately 3% but is approximately 15% in offspring of an affected mother. Abnormal fetal hemodynamics are theorized to contribute to development of aortic valve stenosis.

Similarly, other forms of left heart obstructive disease may occur repeatedly within families (eg, hypoplastic left heart syndrome in a child whose older sibling had coarctation of the aorta). A definite genetic defect for aortic valve stenosis has not been identified, but the presence of a bicuspid aortic valve has been documented in multiple family members and is a common congenital heart defect in patients with Turner syndrome (monosomy X).

More on Aortic Stenosis, Valvar

Overview: Aortic Stenosis, Valvar
Differential Diagnoses & Workup: Aortic Stenosis, Valvar
Treatment & Medication: Aortic Stenosis, Valvar
Follow-up: Aortic Stenosis, Valvar
References
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Further Reading

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Keywords

valvar aortic stenosis, left ventricular outflow tract obstruction, aortic valve stenosis, supravalvar aortic stenosis, subvalvular aortic stenosis, valvular aortic stenosis, exercise-induced syncope, myocardial ischemia, congestive heart failure, bicuspid aortic valve, patent ductus arteriosus, coarctation of aorta, ventricular septal defect, mitral valve abnormalities, left ventricular hypoplasia, cardiac murmur, chest pain, hypoplastic left heart syndrome, Turner syndrome

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Contributor Information and Disclosures

Author

Howard S Weber, MD, FAAP, FACC, FSCAI, Professor, Assistant Chief, Section of Pediatric Cardiology, Penn State University School of Medicine; Director, Pediatric Catheterization Laboratory, Milton S Hershey Medical Center
Howard S Weber, MD, FAAP, FACC, FSCAI 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.

Coauthor(s)

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.

Medical Editor

Juan Carlos Alejos, MD, Associate Clinical Professor, Department of Pediatrics, Division of Cardiology, University of California at Los Angeles
Juan Carlos Alejos, MD is a member of the following medical societies: American Academy of Pediatrics, American College of Cardiology, American Heart Association, American Medical Association, and International Society for Heart and Lung Transplantation
Disclosure: Actelion Honoraria Speaking and teaching

Pharmacy Editor

Mary L Windle, PharmD, Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy, Pharmacy Editor, eMedicine
Disclosure: Pfizer Inc Stock Investment from broker recommendation; Avanir Pharma Stock Investment from broker recommendation

Managing Editor

John W Moore, MD, MPH, Professor of Clinical Pediatrics, Division of Pediatric Cardiology, Mattel Children's Hospital of University of California at Los Angeles
John W Moore, MD, MPH is a member of the following medical societies: Society for Cardiac Angiography and Interventions
Disclosure: Nothing to disclose.

CME Editor

Gilbert Herzberg, MD, Assistant Professor, Department of Pediatrics, Section of Pediatric Cardiology, New York Medical College
Gilbert 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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