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KEY FEATURES

ESSENTIALS OF DIAGNOSIS

  • History of murmur since infancy, aortic coarctation repair, or endocarditis

  • Early systolic ejection sound, harsh crescendo-decrescendo systolic murmur, or early decrescendo diastolic murmur

  • Left ventricular hypertrophy

  • Abnormal bicuspid or dysplastic aortic valve with stenosis or regurgitation on Doppler echocardiography

GENERAL CONSIDERATIONS

  • Most common congenital heart disease with a prevalence of about 2% of the population

  • Represents about 50% of all congenital outflow tract obstructive lesions

  • Occurs more commonly in men than women by 3:1

  • Bicuspid aortic valve is a misnomer since a raphe caused by the fusion of 2 aortic valve leaflets usually exists

  • Associated lesions include:

    • – Patent ductus arteriosus

    • – Coarctation of the aorta

    • – Ventricular septal defects

  • Hemodynamic distortions:

    • – Lead to progressive valvular degeneration

    • – Result in moderate to severe aortic stenosis in about 25% of patients

    • – Result in moderate to severe aortic regurgitation in about 25% of patients

  • Aortic root or ascending aorta dilatation occurs in about 33% of patients

  • Infective endocarditis occurs in about 5% of patients

CLINICAL PRESENTATION

SYMPTOMS AND SIGNS

  • Dyspnea

  • Angina

  • Effort syncope

  • Sudden cardiac death

PHYSICAL EXAM FINDINGS

  • Pulsus parvus et tardus

  • Increased size, amplitude, and duration of the apical impulse

  • Systolic ejection sound, diminished A2, and presence of an S4

  • Harsh systolic ejection murmur radiating to the neck

  • Often a high-pitched decrescendo murmur of aortic regurgitation

  • Systolic murmur augmented in intensity in the beat after a premature beat

  • Physical findings of associated lesions may be present

DIFFERENTIAL DIAGNOSIS

  • Discrete subaortic stenosis

  • Hypertrophic obstructive cardiomyopathy

  • Marfan’s syndrome with aortic regurgitation

  • Pulmonic stenosis

  • Ventricular septal defect

  • Mitral valve prolapse with mitral regurgitation

DIAGNOSTIC EVALUATION

LABORATORY TESTS

  • No specific tests

ELECTROCARDIOGRAPHY

  • Left ventricular hypertrophy if significant aortic stenosis is present

  • Left atrial abnormality

IMAGING STUDIES

  • Chest x-ray often shows left ventricular enlargement; dilated ascending aorta in some

  • Echocardiography demonstrates the bicuspid aortic valve

    • – In most, the leaflet orientation is anterior and posterior

    • – In some, it is right to left

    • – Occasionally, a raphe on a leaflet may mimic a tricuspid leaflet arrangement and transesophageal echo is needed to diagnose a bicuspid valve

  • Doppler echocardiography can be used:

    • – To measure the pressure gradient across the valve

    • – To estimate orifice area size

  • Color flow Doppler is useful for assessing associated lesions such as aortic regurgitation

  • Cardiac MRI is excellent for defining the anatomy in difficult echocardiographic imaging cases

DIAGNOSTIC PROCEDURES

  • Cardiac catheterization is usually reserved for assessing the coronary arteries in older patients with coronary artery disease risk factors in whom surgery is being contemplated, but ...

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