Aortopulmonary Septal Defect Clinical Presentation

  • Author: Barry A Love, MD; Chief Editor: Stuart Berger, MD   more...
 
Updated: Mar 5, 2012
 

History

The clinical presentation of aortopulmonary septal defect (APSD) depends on the size of the defect, pulmonary vascular resistance (PVR), and associated anomalies.

  • In a large defect with falling PVR, aortopulmonary septal defect presents with typical signs and symptoms of congestive heart failure (CHF) indistinguishable from those of a large ventricular septal defect (VSD) or ductus arteriosus.
    • Symptoms usually emerge between the second and eighth weeks of life.
    • Caregivers typically report signs of CHF as tachypnea and diaphoresis (especially with feeds), poor feeding, and usually poor growth.
  • If aortopulmonary septal defect is associated with interrupted aortic arch or severe coarctation, the infant may present with signs and symptoms of shock in newborn period as the ductus arteriosus closes.
  • In less common scenarios (about 10% of patients), the defect is small and restrictive and presents as an asymptomatic murmur in the first weeks to months of life.
  • In presence of a large, nonrestrictive defect, PVR in some patients may not fall significantly, CHF does not develop, and the patients may be relatively asymptomatic.
    • Because pulmonary and systemic resistances are comparable, some right-to-left shunting and mild cyanosis may be present yet not clinically apparent.
    • Unfortunately, despite lack of symptoms, irreversible pulmonary vascular obstructive disease (PVOD) typically develops with time. At this stage, fatigue, exercise intolerance, and cyanosis may appear.
    • Children with persistently elevated PVR are most difficult to identify clinically, and many years pass before diagnosis with serious heart disease.
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Physical

  • If a large, nonrestrictive defect with low PVR is present, then physical examination findings are indistinguishable from those of a large patent ductus arteriosus (PDA). These findings include tachypnea, tachycardia, and increased work of breathing.
    • Continuous run-off into the pulmonary circuit during diastole, in combination with an elevated stoke volume, causes a wide pulse pressure with bounding pulses.
    • Palpation reveals a hyperdynamic precordial impulse from increased volume load on the left ventricle.
    • Auscultation reveals a loud and single second heart sound with a continuous murmur at the left upper sternal border. Often, a gallop rhythm and an apical diastolic rumble from increased volume load are present.
    • Hepatic congestion and hepatomegaly develop in proportion to the degree of heart failure.
    • Failure to thrive is concomitant with the degree of heart failure.
  • In situations in which PVR fails to fall significantly after birth, findings may be subtler.
    • The second heart sound is single, yet no murmur or only a soft systolic murmur may be observed. Pulses are not bounding; little diastolic run-off is noted.
    • Subtle cyanosis may be present from a small amount of right-to-left shunt when pulmonary and systemic resistances are comparable. With irreversible pulmonary vascular changes and Eisenmenger syndrome, cyanosis may become more prominent. Cyanosis will be present if other cyanotic lesions are present (eg, transposition of the great vessels, tetralogy of Fallot).
  • A continuous murmur may be the only physical finding if the defect is small and restrictive.
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Causes

  • Aortopulmonary septal defect is likely caused by multifactorial genetic etiologies. No clear inheritance pattern is noted in most patients. Although this defect appears to have clinical similarities with truncus arteriosus and interrupted aortic arch type B, aortopulmonary septal defect is not associated with the 22q-/DiGeorge syndrome as are the other malformations. Note that the aortic arch interruption commonly associated with aortopulmonary septal defect occurs as type A rather than type B.
  • Rarely, aortopulmonary septal defect has been described in children affected by other syndromes, including vertebral, anorectal, cardiac, tracheoesophageal, renal, and limb (VACTERL) association, with one case report of an infant with terminal 2q deletion,[15]
  • One small case series described 3 unrelated children with iris hypoplasia and aortopulmonary septal defect.[16] The hypothesized association between the 2 problems is an error in neural crest development.
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Contributor Information and Disclosures
Author

Barry A Love, MD  Assistant Professor, Department of Medicine, Division of Cardiology, Assistant Professor, Division Pediatric Cardiology, Pediatrics and Medicine, Division of Pediatric Cardiology, Mount Sinai School of Medicine

Disclosure: Nothing to disclose.

Specialty Editor Board

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.

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.

Alvin J Chin, MD  Professor of Pediatrics, University of Pennsylvania School of Medicine; Attending Physician, Cardiology Division, Children's Hospital of Philadelphia

Alvin J Chin, MD, is a member of the following medical societies: American Association for the Advancement of Science, American Heart Association, and Society for Developmental Biology

Disclosure: Nothing to disclose.

Gilbert Z Herzberg, MD  Assistant Professor, Department of Pediatrics, Section of Pediatric Cardiology, New York Medical College; Consulting Staff, Department of Pediatrics, Sound Shore Medical Center

Gilbert Z Herzberg, MD is a member of the following medical societies: American Academy of Pediatrics

Disclosure: Nothing to disclose.

Chief Editor

Stuart Berger, MD  Professor of Pediatrics, Division of Cardiology, Medical College of Wisconsin; Chief of Pediatric Cardiology, Medical Director of Pediatric Heart Transplant Program, Medical Director of The Heart Center, Children's Hospital of Wisconsin

Stuart Berger, MD is a member of the following medical societies: American Academy of Pediatrics, American College of Cardiology, American College of Chest Physicians, American Heart Association, and Society for Cardiac Angiography and Interventions

Disclosure: Nothing to disclose.

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Echocardiographic image of a 1-month-old infant with a large isolated aortopulmonary septal defect (APSD). The image is a parasternal short-axis view just below the pulmonary artery bifurcation. Aorta at this level is to the right and in the same anterior-posterior plane as the main pulmonary artery (MPA). Right pulmonary artery is seen posterior to the aorta at this level, but the origin of the pulmonary arteries is not visible; it is more superior than this axial image. Normally, a complete wall should be visible for both aorta and pulmonary artery. This image shows the absence of that wall, resulting in the large defect between aorta and pulmonary artery.
Angiogram of a small-to-moderate aortopulmonary septal defect in a 4 year-old child. Complete occlusion of the aortopulmonary septal defect with an Amplatzer Duct Occluder. Ao = Ascending aorta; PA = Pulmonary artery.
 
 
 
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