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

Pulmonary Atresia With Intact Ventricular Septum

Author: John R Charpie, MD, PhD, Associate Professor, Department of Pediatrics, University of Michigan Medical Center
Contributor Information and Disclosures

Updated: Apr 17, 2009

Introduction

Background

Pulmonary atresia with intact ventricular septum (PAIVS) is a rare congenital cardiac lesion characterized by heterogeneous right ventricular development, an imperforate pulmonary valve, and possible extensive ventriculocoronary connections. Prognosis and management depend on the degree of right ventricular hypoplasia (including tricuspid valve hypoplasia) and the dependency of the myocardial blood supply on abnormal communications between the right ventricle and coronary arteries. These 2 factors are the most important prognostic determinants.

Pathophysiology

The PAIVS spectrum ranges from a normal-sized or slightly hypoplastic tripartite right ventricle with a well-formed infundibulum and imperforate pulmonary valve with commissural fusion to a diminutive unipartite right ventricle, narrowed or atretic infundibulum, primitive pulmonary valve, and ventriculocoronary artery connections (with or without stenoses). In PAIVS, the tricuspid valve is rarely normal and demonstrates a continuum of abnormalities, ranging from severe stenosis (often related to annular hypoplasia) to severe regurgitation. In addition, PAIVS has an obligatory right-to-left atrial-level shunt (through a patent foramen ovale or secundum atrial septal defect). Pulmonary blood flow usually depends on a patent ductus arteriosus. Aortopulmonary collaterals that originate from the descending thoracic aorta are rare.

Frequency

United States

Despite overall low prevalence, PAIVS is one form of cyanotic congenital heart disease (CCHD) that usually presents during the neonatal period (along with transposition of the great arteries, tricuspid atresia, and pulmonary atresia with ventricular septal defect). PAIVS has no known genetic etiology, although rare familial cases have been described. PAIVS occurs in 7.1-8.1 per 100,000 live births and in 0.7-3.1% of patients with congenital heart disease (CHD).

International

PAIVS occurs in 4.5 per 100,000 live births in the United Kingdom and Ireland.

Mortality/Morbidity

Early survival depends on maintaining ductal patency until a palliative procedure can be performed to establish a reliable source of pulmonary blood flow. Placement of a systemic-to-pulmonary artery shunt is the most common procedure. In both the short- and long-term, patients are at risk for sudden death, angina, arrhythmias, and congestive heart failure (CHF), in addition to complications of prolonged cyanosis and hypoxemia. The overall probability of survival for patients with PAIVS is approximately 65-82% at age 1 year and 64-76% at age 5 years.

  • Sudden death, angina, and arrhythmias: PAIVS is associated with ventriculocoronary connections in approximately 45% of patients. Because coronary artery stenoses are present in nearly 9% of patients, the coronary circulation is considered dependent on right ventricular systolic events. These patients are at particularly high risk for myocardial ischemia, angina, ventricular arrhythmias, and sudden death compared with patients who have other forms of CHD.
  • CHF: Depending on the particular anatomic substrate, these patients may have an early predilection for heart failure due to both tricuspid regurgitation and left-to-right, ductal-dependent, pulmonary blood flow. Postoperatively, the risk of heart failure may continue, depending on the ratio of pulmonary-to-systemic blood flow and on the degree of tricuspid and pulmonary regurgitation (following possible right ventricular outflow-tract reconstruction or pulmonary valvotomy). Most late reoperations following biventricular repair are pulmonary valve replacements.
  • Cyanosis: Long-term complications of cyanosis and hypoxemia include polycythemia and a hyperviscosity syndrome. These patients may develop headache, decreased exercise tolerance, and stroke. In addition, thrombocytopenia is a common finding that leads to bleeding complications in patients with CCHD.

Age

PAIVS is a cyanotic congenital heart lesion that presents in the newborn period coincident with closure of the patent ductus arteriosus.

Clinical

History

  • Infants with pulmonary atresia with intact ventricular septum (PAIVS) are usually born at term, and cyanosis is apparent within hours.
  • These babies develop progressively worsening cyanosis and tachypnea associated with closure of the patent ductus arteriosus.

Physical

  • The most common finding upon physical examination is central (perioral and periorbital) cyanosis. Following ductal closure, profound generalized cyanosis is present.
  • Apical left ventricular impulse may be pronounced.
  • The first and second heart sounds are single.
  • A pansystolic murmur is often heard at the left lower sternal border, consistent with tricuspid regurgitation. If severe, the murmur of tricuspid regurgitation may be associated with a thrill and a diastolic rumble.
  • A systolic ejection murmur of the patent ductus arteriosus may be heard at the left second or third intercostal space, particularly after initiating prostaglandin infusion.
  • Normal arterial pulses are usually present.
  • Hepatomegaly is uncommon unless the atrial septal defect is restrictive (rare).

Causes

  • As with many forms of congestive heart disease (CHD), the genetic cause of PAIVS is unknown.
  • Kutsche and Van Mierop suggest that PAIVS probably occurs relatively late in cardiac morphogenesis after cardiac septation compared with pulmonary atresia with ventricular septal defect.1 This may reflect a prenatal inflammatory or infectious condition; however, no histopathological evidence currently supports this view.
  • In rare familial cases, some researchers advocate a single gene theory.

More on Pulmonary Atresia With Intact Ventricular Septum

Overview: Pulmonary Atresia With Intact Ventricular Septum
Differential Diagnoses & Workup: Pulmonary Atresia With Intact Ventricular Septum
Treatment & Medication: Pulmonary Atresia With Intact Ventricular Septum
Follow-up: Pulmonary Atresia With Intact Ventricular Septum
Multimedia: Pulmonary Atresia With Intact Ventricular Septum
References
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References

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Further Reading

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Keywords

pulmonary atresia with intact ventricular septum, PA/IVS, PAIVS, membranous pulmonary atresia, cardiac lesion, imperforate pulmonary valve, ventriculocoronary connections, right ventricular hypoplasia, tricuspid valve hypoplasia, stenosis, right-to-left shunt, patent foramen ovale, secundum atrial septal defect, cyanotic congenital heart disease, CCHD, transposition of the great arteries, tricuspid atresia, ventricular septal defect, angina, arrhythmia, congestive heart failure, CHF, prolonged cyanosis, hypoxemia, myocardial ischemia, angina, polycythemia, hyperviscosity syndrome, thrombocytopenia, apical left ventricular impulse, treatment, diagnosis

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Contributor Information and Disclosures

Author

John R Charpie, MD, PhD, Associate Professor, Department of Pediatrics, University of Michigan Medical Center
John R Charpie, MD, PhD is a member of the following medical societies: American Academy of Pediatrics, American College of Cardiology, American Heart Association, and Society for Pediatric Research
Disclosure: Nothing to disclose.

Medical Editor

Charles I Berul, MD, Associate Professor of Pediatrics, Harvard Medical School; Senior Associate, Department of Cardiology, Children's Hospital of Boston
Charles I Berul, MD is a member of the following medical societies: American Academy of Pediatrics, American College of Cardiology, American Heart Association, Heart Rhythm Society, and Society for Pediatric Research
Disclosure: Nothing to disclose.

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 financial planner; Avanir Pharma Stock Investment from financial planner ; WebMD Salary and stock Employment and investment from financial planner

Managing Editor

John W Moore, MD, MPH, Professor of Clinical Pediatrics, Section of Pediatric Cardiology, Department of Pediatrics, University of California San Diego School of Medicine; Director of Cardiology, Rady Children's Hospital
John W Moore, MD, MPH 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.

CME Editor

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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