Pulmonary Atresia With Intact Ventricular Septum

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 ...