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KEY FEATURES

ESSENTIALS OF DIAGNOSIS

  • History of cyanosis at birth, which worsens at the time of ductal closure

  • Single S2; continuous murmur is rare

  • Oligemic lung fields, enlarged cardiac silhouette on chest x-ray

  • Atrial septal defect, small right ventricle, absent pulmonary valve

GENERAL CONSIDERATIONS

  • Rarely encountered in adults with congenital heart disease

  • Pulmonary valve is absent or imperforate

  • Pulmonary blood flow is retrograde through patent ductus arteriosus in the newborn in most cases

  • Left atrium receives all the systemic and pulmonary venous return through an atrial septal defect

  • Cyanosis may worsen acutely when the ductus closes shortly after birth

  • A palliative shunt may be placed to increase pulmonary blood flow

  • The right ventricle may be diminutive, normal, or enlarged depending on the size of the tricuspid valve orifice and the degree of tricuspid regurgitation, if any

  • Many have ventriculocoronary connections with coronary perfusion dependent on right ventricular systolic events

CLINICAL PRESENTATION

SYMPTOMS AND SIGNS

  • History of cyanosis that worsens shortly after birth when the ductus closes

PHYSICAL EXAM FINDINGS

  • Infant with cyanosis

  • Physical exam variable and depends on the size of the right ventricle and the presence of tricuspid regurgitation

  • Single S2

  • Continuous murmur rare

DIFFERENTIAL DIAGNOSIS

  • Tricuspid atresia

  • Other causes of cyanosis

DIAGNOSTIC EVALUATION

LABORATORY TESTS

  • CBC may show polycythemia

ELECTROCARDIOGRAPHY

  • Prominent left ventricular forces

IMAGING STUDIES

  • Chest x-ray:

    • – Oligemic lung fields and an enlarged cardiac silhouette caused by an enlarged left ventricle

  • Echocardiogram:

    • – Atrial septal defect

    • – Small, hypertrophied right ventricle

    • – Patent, small tricuspid valve

    • – Thickened, immobile, atretic pulmonary valve with no Doppler evidence of flow through it

    • – The ductus possibly running from the aortic arch to pulmonary artery

DIAGNOSTIC PROCEDURES

  • Cardiac catheterization:

    • – Systemic or suprasystemic right ventricular pressures

    • – Catheter cannot be passed from the right ventricle to the pulmonary artery

    • – Angiography of the right ventricle fails to opacify the pulmonary arteries

    • – Contrast may fill the sinusoid vessels that often communicate with the coronary arteries

TREATMENT

CARDIOLOGY REFERRAL

  • Regular cardiology follow-up throughout childhood and adulthood is recommended

  • Chest pain and coronary ischemia

  • Worsened cyanosis

  • Heart failure

HOSPITALIZATION CRITERIA

  • Sudden death

  • Angina

  • Arrhythmias

MEDICATIONS

  • Diuretics for heart failure

  • Beta blockers including antianginals for coronary ischemia

SURGERY

  • In the older child with an adequate-sized right ventricle, a right ventricle to main pulmonary artery conduit is placed (Rastelli procedure)

  • In those with ...

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