AUTHOR AND EDITOR INFORMATION

Section 1 of 10  

• Authors and Editors
• Introduction
• Clinical
• Differentials
• Workup
• Treatment
• Medication
• Follow-up
• Miscellaneous
• References

INTRODUCTION

Section 2 of 10  

• Authors and Editors
• Introduction
• Clinical
• Differentials
• Workup
• Treatment
• Medication
• Follow-up
• Miscellaneous
• References

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

Section 3 of 10  

• Authors and Editors
• Introduction
• Clinical
• Differentials
• Workup
• Treatment
• Medication
• Follow-up
• Miscellaneous
• References

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 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.

DIFFERENTIALS

Section 4 of 10  

• Authors and Editors
• Introduction
• Clinical
• Differentials
• Workup
• Treatment
• Medication
• Follow-up
• Miscellaneous
• References

WORKUP

Section 5 of 10  

• Authors and Editors
• Introduction
• Clinical
• Differentials
• Workup
• Treatment
• Medication
• Follow-up
• Miscellaneous
• References

Lab Studies

• No laboratory blood tests help to confirm a specific diagnosis of pulmonary atresia with intact ventricular septum (PAIVS).
• An ABG study is likely to show hypoxemia and hypocarbia refractory to inspired oxygen concentration, consistent with CCHD and a fixed right-to-left shunt.

Imaging Studies

• Echocardiography and Doppler
• • Two-dimensional echocardiography is usually diagnostic for PAIVS. A combination of subcostal and precordial views reveals anatomic pulmonary atresia in addition to tricuspid valve and right ventricular morphology and size. Echocardiography and angiography are the 2 most important studies in diagnosis of pulmonary atresia.
  • Absolute volume measurements of the right ventricle usually have limited value. Data from the Congenital Heart Surgeons Study showed that the diameter of the tricuspid valve normalized to body surface area (tricuspid valve z-value) was highly correlated with size of the right ventricular cavity.² In addition, retrospective data suggest that the degree of right ventricular hypoplasia was the most important determinant in a single-ventricle versus 2-ventricle repair.³
  • In addition, color flow and continuous wave Doppler studies reveal the degree of tricuspid regurgitation, allow the estimation of right ventricular pressure, and reveal restriction of the interatrial communication (uncommon).
  • A combination of imaging and Doppler echocardiography reveals branch pulmonary artery size and configuration (usually within reference ranges), as well as ductal patency. Echocardiographic imaging may reveal ventriculocoronary connections (coronary sinusoids) but has limited use for identifying coronary artery stenoses and right ventricular–dependent coronary circulation.
• Angiocardiography
• • The prognosis of a neonate with PAIVS directly relates to the presence or absence of ventriculocoronary connections and right ventricular–dependent coronary circulation. Although echocardiography is diagnostic for PAIVS, angiocardiography is an important imaging modality for planning future intervention.
  • Right ventricular angiocardiography defines the presence or absence of ventriculocoronary connections and provides information about the size, morphology, and function of the tricuspid valve and right ventricle.
  • Balloon occlusion aortography reveals the proximal coronary arteries and coronary arterial stenosis or interruption.
• Radiography
• • Chest radiography usually reveals mild cardiomegaly and decreased or normal pulmonary vascular markings.
  • With severe tricuspid regurgitation (and a dysplastic tricuspid valve), profound cardiomegaly due to right atrial enlargement may be present.

Other Tests

• Electrocardiography
• • ECG often reveals normal sinus rhythm, QRS axis +30° to +90°, decreased right ventricular forces, left ventricular dominance, and right atrial enlargement (proportional to the degree of tricuspid regurgitation).
  • In addition, ST-T wave abnormalities are common in patients with ventriculocoronary connections or coronary artery stenosis and are consistent with subendocardial ischemia.

Procedures

• Cardiac catheterization
• • Cardiac catheterization allows right ventricular pressure measurement, confirms anatomic pulmonary atresia, and evaluates right and left ventricular function.
  • Ventriculocoronary connections can also be delineated with cardiac catheterization, as can the morphology and size of the tricuspid valve and right ventricle.
  • In the rare instance of a restrictive atrial communication, a transcatheter balloon or blade atrial septostomy may help maintain adequate cardiac output. Recently, transcatheter wire puncture, laser, and radiofrequency-assisted balloon pulmonary valvotomy have been used as alternatives to surgical valvotomy in patients with PAIVS.  However, despite the fact that a technically adequate valvotomy can be achieved in a fairly high percentage of patients, catheter-related complications are common, and valvotomy alone rarely obviates the need for an additional source of pulmonary blood flow (shunt or ductal stenting).

Histologic Findings

Patients with PAIVS can demonstrate a wide range of myocardial abnormalities including ischemia, fibrosis, infarction, rupture, fiber disarray, spongy myocardium, and endocardial fibroelastosis. The degree of endocardial fibroelastosis inversely relates to the degree of ventriculocoronary connections.

TREATMENT

Section 6 of 10  

• Authors and Editors
• Introduction
• Clinical
• Differentials
• Workup
• Treatment
• Medication
• Follow-up
• Miscellaneous
• References

Medical Care

• Initial treatment consists of maintaining ductal patency with continuous intravenous prostaglandin E₁ infusion.
• To correct metabolic acidosis in a neonate, replace fluids and administer sodium bicarbonate.
• Mechanical ventilation may be necessary if acidosis persists.
• Patients ultimately require surgical palliation or therapeutic catheterization prior to hospital discharge.

Surgical Care

Surgical algorithms for pulmonary atresia with intact ventricular septum (PAIVS) depend on the size and morphology of both the tricuspid valve and the right ventricle, as well as the presence of abnormal coronary artery anatomy.

• Mild tricuspid valve and right ventricular hypoplasia without ventriculocoronary connections
• • Perform a surgical valvotomy or transannular patch, with or without a systemic-to-pulmonary artery shunt, or a transcatheter valvotomy, with or without stenting of the patent ductus arteriosus.
  • If the right ventricle and tricuspid valve grow, a 2-ventricle correction is probable in the future.
  • Recently, one-stage definitive repair has been described in 2 infants.⁴ The repair comprised resection of hypertrophied muscles in the outflow and trabecular portions of the right ventricle (right ventricular overhaul technique), surgical valvotomy or transannular patch, and adjustable snare-closure of the foramen ovale.
• Moderate-to-severe tricuspid valve and right ventricular hypoplasia without ventriculocoronary connections
• • Perform a surgical valvotomy or transannular patch with a systemic-to-pulmonary artery shunt or a transcatheter valvotomy with stenting of the patent ductus arteriosus.
  • Future univentricular (Fontan) repair is likely.
• Moderate-to-severe tricuspid valve and right ventricular hypoplasia with ventriculocoronary connections but no stenoses or interruption
• • Perform a surgical valvotomy or transannular patch with a systemic-to-pulmonary artery shunt or a transcatheter valvotomy with stenting of the patent ductus arteriosus.
  • Future univentricular (Fontan) repair is likely.
• Moderate-to-severe tricuspid valve and right ventricular hypoplasia with ventriculocoronary connections and proximal stenoses or interruption
• • Perform a systemic-to-pulmonary artery shunt or stenting of the patent ductus arteriosus.
  • Future univentricular (Fontan) repair or heart transplant is likely.

Consultations

• Pediatric cardiologist
• Pediatric cardiothoracic surgeon

Diet

Patients with PAIVS require increased caloric density during infancy to provide 120-130 kcal/kg/d for approximately 6 months.

Activity

No specific activity restrictions are necessary.

MEDICATION

Section 7 of 10  

• Authors and Editors
• Introduction
• Clinical
• Differentials
• Workup
• Treatment
• Medication
• Follow-up
• Miscellaneous
• References

No specific drug therapies address pulmonary atresia with intact ventricular septum (PAIVS). Following initial palliation and maintenance of ductal patency with alprostadil (PGE1), some patients may benefit from digoxin and diuretic therapy to improve left ventricular contractility and to avoid fluid retention. Patients with stents should receive low-dose aspirin therapy.

Drug Category: Inotropic agents

These agents increase the contractility of cardiac muscle in a dose-dependent manner (ie, positive inotropic effect).

Drug Category: Loop diuretics

These agents inhibit electrolyte reabsorption in the thick ascending limb of the Henle loop in the kidney, thus promoting diuresis.

Drug Category: Prostaglandins

PGE1 is used for treatment of ductal dependent cyanotic congenital heart disease, which is due to decreased pulmonary blood flow.

FOLLOW-UP

Section 8 of 10  

• Authors and Editors
• Introduction
• Clinical
• Differentials
• Workup
• Treatment
• Medication
• Follow-up
• Miscellaneous
• References

Further Inpatient Care

• Admit patient for future preoperative testing and surgical interventions.
• Pulmonary valve replacement constitutes most late reoperations.

Further Outpatient Care

• Carefully monitor medication doses and adverse effects.
• Monitor adequacy of repair/palliation with periodic echocardiography.

In/Out Patient Meds

• Possible discharge medications include digoxin, furosemide, and aspirin.

Transfer

• Transfer may be required for specialized diagnostic evaluation and surgical intervention.

Complications

• CHF
• Sudden death
• Arrhythmia

Prognosis

• Prognosis depends on the specific anatomy and type of intervention (univentricular or biventricular correction).
• Overall survival is approximately 64-76% at age 5 years; however, single institutions report improved intermediate-term outcomes in relatively small series.

Patient Education

• Provide cardiopulmonary resuscitation (CPR) instruction to family members.
• Educate family members about CHD.
• Consider genetics counseling for future pregnancies.

MISCELLANEOUS

Section 9 of 10  

• Authors and Editors
• Introduction
• Clinical
• Differentials
• Workup
• Treatment
• Medication
• Follow-up
• Miscellaneous
• References

Medical/Legal Pitfalls

• Failure to consider the diagnosis, especially in a cyanotic newborn
• Preoperative failure to evaluate for ventriculocoronary connections and coronary artery stenosis

REFERENCES

Section 10 of 10

• Authors and Editors
• Introduction
• Clinical
• Differentials
• Workup
• Treatment
• Medication
• Follow-up
• Miscellaneous
• References

1. Kutsche LM, Van Mierop LH. Pulmonary atresia with and without ventricular septal defect: a different etiology and pathogenesis for the atresia in the 2 types?. Am J Cardiol. Mar 15 1983;51(6):932-5. [Medline].
2. Hanley FL, Sade RM, Blackstone EH, et al. Outcomes in neonatal pulmonary atresia with intact ventricular septum. A multiinstitutional study. J Thorac Cardiovasc Surg. Mar 1993;105(3):406-23, 424-7; discussion 423-4. [Medline].
3. Odim J, Laks H, Tung MD, Thomas C. Successful management of patients with pulmonary atresia with intact ventricular septum using a three tier grading system for right ventricular hypoplasia. Ann Thorac Surg. Feb 2006;81(2):678-684. [Medline].
4. Shinkawa T, Yamagishi M, Shuntoh K, et al. One-stage definitive repair of pulmonary atresia with intact ventricular septum and hypoplastic right ventricle. J Thorac Cardiovasc Surg. Oct 2005;130(4):1207-8. [Medline].
5. Agnoletti G, Piechaud JF, Bonhoeffer P, et al. Perforation of the atretic pulmonary valve. Long-term follow-up. J Am Coll Cardiol. Apr 16 2003;41(8):1399-403. [Medline].
6. Alwi M, Geetha K, Bilkis AA, et al. Pulmonary atresia with intact ventricular septum percutaneous radiofrequency-assisted valvotomy and balloon dilation versus surgical valvotomy and Blalock Taussig shunt. J Am Coll Cardiol. Feb 2000;35(2):468-76. [Medline].
7. Ansari A, Goltz D, McCarthy KP, et al. The conduction system in hearts with pulmonary atresia and intact ventricular septum. Ann Thorac Surg. May 2003;75(5):1502-5. [Medline].
8. Ashburn DA, Blackstone EH, Wells WJ, et al. Determinants of mortality and type of repair in neonates with pulmonary atresia and intact ventricular septum. J Thorac Cardiovasc Surg. Apr 2004;127(4):1000-7; discussion 1007-8. [Medline].
9. Bichell DP. Evaluation and management of pulmonary atresia with intact ventricular septum. Curr Opin Cardiol. Jan 1999;14(1):60-6. [Medline].
10. Bonnet D, Gautier-Lhermitte I, Bonhoeffer P, Sidi D. Right ventricular myocardial sinusoidal-coronary artery connections in critical pulmonary valve stenosis. Pediatr Cardiol. May-Jun 1998;19(3):269-71. [Medline].
11. Calder LA, Peebles CR, Occleshaw CJ. The prevalence of coronary arterial abnormalities in pulmonary atresia with intact ventricular septum and their influence on surgical results. Cardiol Young. Jun 18 2007;1-10. [Medline].
12. Chitayat D, McIntosh N, Fouron JC. Pulmonary atresia with intact ventricular septum and hypoplastic right heart in sibs: a single gene disorder?. Am J Med Genet. Feb 1 1992;42(3):304-6. [Medline].
13. Choi YH, Seo JW, Choi JY, et al. Morphology of tricuspid valve in pulmonary atresia with intact ventricular septum. Pediatr Cardiol. Sep-Oct 1998;19(5):381-9. [Medline].
14. Daubeney PE, Wang D, Delany DJ, et al. Pulmonary atresia with intact ventricular septum: predictors of early and medium-term outcome in a population-based study. J Thorac Cardiovasc Surg. Oct 2005;130(4):1071. [Medline].
15. Dyamenahalli U, McCrindle BW, McDonald C, et al. Pulmonary atresia with intact ventricular septum: management of, and outcomes for, a cohort of 210 consecutive patients. Cardiol Young. Jun 2004;14(3):299-308. [Medline].
16. Freedom RM. Pulmonary atresia and intact ventricular septum. In: Moss and Adams Heart Disease in Infants, Children, and Adolescents. 5^th ed. 1995:962-83.
17. Grossfeld PD, Lucas VW, Sklansky MS, et al. Familial occurrence of pulmonary atresia with intact ventricular septum. Am J Med Genet. Oct 31 1997;72(3):294-6. [Medline].
18. Hijazi ZM, Patel H, Cao QL, Warner K. Transcatheter retrograde radio-frequency perforation of the pulmonic valve in pulmonary atresia with intact ventricular septum, using a 2 French catheter. Cathet Cardiovasc Diagn. Oct 1998;45(2):151-4. [Medline].
19. Humpl T, Soderberg B, McCrindle BW, et al. Percutaneous balloon valvotomy in pulmonary atresia with intact ventricular septum: impact on patient care. Circulation. Aug 19 2003;108(7):826-32. [Medline].
20. Jahangiri M, Zurakowski D, Bichell D, et al. Improved results with selective management in pulmonary atresia with intact ventricular septum. J Thorac Cardiovasc Surg. Dec 1999;118(6):1046-55. [Medline].
21. Kreutzer C, Mayorquim RC, Kreutzer GO, et al. Experience with one and a half ventricle repair. J Thorac Cardiovasc Surg. Apr 1999;117(4):662-8. [Medline].
22. Leonard H, Derrick G, O'Sullivan J, Wren C. Natural and unnatural history of pulmonary atresia. Heart. Nov 2000;84(5):499-503. [Medline].
23. McLean KM, Pearl JM. Pulmonary atresia with intact ventricular septum: initial management. Ann Thorac Surg. Dec 2006;82(6):2214-9; discussion 2219-20. [Medline].
24. Mishima A, Asano M, Sasaki S, et al. Long-term outcome for right heart function after biventricular repair of pulmonary atresia and intact ventricular septum. Jpn J Thorac Cardiovasc Surg. Mar 2000;48(3):145-52. [Medline].
25. Odim J, Laks H, Tung T. Risk factors fro early death and reoperation following biventricular repair of pulmonary atresia with intact ventricular septum. Euro J Cardiothorac Surg. May 2006;29(5):659-665. [Medline].
26. Ovaert C, Qureshi SA, Rosenthal E, et al. Growth of the right ventricle after successful transcatheter pulmonary valvotomy in neonates and infants with pulmonary atresia and intact ventricular septum. J Thorac Cardiovasc Surg. May 1998;115(5):1055-62. [Medline].
27. Park IS, Nakanishi T, Nakazawa M. Radiofrequency pulmonary valvotomy using a new 2-French catheter. Cathet Cardiovasc Diagn. Sep 1998;45(1):37-42. [Medline].
28. Roman KS, Fouron JC, Nii M, Smallhorn JF, Chaturvedi R, Jaeggi ET. Determinants of outcome in fetal pulmonary valve stenosis or atresia with intact ventricular septum. Am J Cardiol. Mar 2007;99(5):699-703. [Medline].
29. Rychik J, Levy H, Gaynor JW, et al. Outcome after operations for pulmonary atresia with intact ventricular septum. J Thorac Cardiovasc Surg. Dec 1998;116(6):924-31. [Medline].
30. Sano S, Ishino K, Kawada M, et al. Staged biventricular repair of pulmonary atresia or stenosis with intact ventricular septum. Ann Thorac Surg. Nov 2000;70(5):1501-6. [Medline].
31. Satou GM, Perry SB, Gauvreau K, Geva T. Echocardiographic predictors of coronary artery pathology in pulmonary atresia with intact ventricular septum. Am J Cardiol. Jun 1 2000;85(11):1319-24. [Medline].
32. Siblini G, Rao PS, Singh GK, et al. Transcatheter management of neonates with pulmonary atresia and intact ventricular septum. Cathet Cardiovasc Diagn. Dec 1997;42(4):395-402. [Medline].
33. Wang JK, Wu MH, Chang CI, et al. Outcomes of transcatheter valvotomy in patients with pulmonary atresia and intact ventricular septum. Am J Cardiol. Nov 1 1999;84(9):1055-60. [Medline].

Article Last Updated: Sep 26, 2007