Pulmonary Atresia with Intact Ventricular Septum: A Rare, Complex Form of Congenital Heart Disease with A Broad Spectrum of Presentation
Susan Nicolson MD, Lindsey Loveland MD, Viviane Nasr MD, James DiNardo MD
Original article
Jaggers J, Winlaw D, Fuller S, Sethi N, Kochilas L, Adachi I, Stone M, Browne L, Khoo N, da Cruz E, Petit C, Lapar D, Stout K, Donofrio M, St Louis J. 2025 American Association for Thoracic Surgery Congenital Cardiac Surgery Working Group- Expert consensus document on the management of patients with pulmonary atresia with intact ventricular septum. J Thorac Cardiovasc Surg. 2025 May 2:S0022-5223(25)00286-7. doi: 10.1016/j.jtcvs.2025.03.034. Epub ahead of print. PMID: 40320005.
Pulmonary atresia with intact ventricular septum (PAIVS) is a rare form of congenital heart disease (CHD) comprising less than 1% of all cardiac defects.1 PAIVS is characterized by membranous atresia of the pulmonary valve (PV) or muscular atresia of the right ventricular outflow tract (RVOT), both accompanied by varying degrees of hypoplasia of the tricuspid valve (TV) and right ventricular (RV) cavity. Severity of RV hypoplasia is associated with abnormal coronary artery formation, especially in the presence of a competent TV. Embryotic development of the coronary arteries involves the formation of sinusoidal connections from the RV cavity to the epicardial surface. Normally, the fistulous communications regress, leaving epicardial coronary channels that later coalesce into vessels and connect to the aorta. In PAIVS the very high pressure in the RV prevents regression of these fistulous connections. In cases where stenosis or atresia of the coronary arteries occurs proximal to the fistulous connections RV dependent coronary circulation (RVDCC) develops. Filling of the coronary arteries from a hypertensive RV in the absence of proximal coronary atresia or stenosis does not constitute RVDCC. In the presence of RVDCC the coronary artery perfusion is dependent on the high intracavitary RV pressure for perfusion of the myocardium in the distribution of the obstructed coronary artery(s). Consequently, the presence of RVDCC is associated with potential for myocardial ischemia and infarction. While there is considerable controversy as to whether involvement of 2 major coronary artery distributions is required to make the diagnosis or if involvement of a single coronary artery distribution is sufficient, it is generally agreed that if a large portion of myocardium is dependent on a pressurized RV to maintain coronary perfusion single ventricle palliation or cardiac transplantation is indicated.
PAIVS occurs with significant morphologic and pathophysiologic variation. Outcomes depend both on the individual patient’s risk profile and on management decisions. Practice variation between centers and individual providers exists, with gaps in evidence supporting specific treatment pathways. The American Association of Thoracic Surgery Congenital Clinical Practice Standards Committee identified PAIVS as a complex lesion for which practitioners could benefit from an expert consensus document to provide management guidelines. This document explores the complexities of this condition, including anatomical considerations, pathophysiology and nuances of treatment that must be highly individualized based on the characteristics of the RV, TV and the anatomy of the coronary arteries. Treatment involves establishment of a stable source of pulmonary blood flow with systemic to pulmonary artery shunt or ductal stenting, followed by single, biventricular or 1.5-ventricular repair and/or heart replacement. The authors identify significant gaps in knowledge in the care of these patients and provide evidence-based and expert-derived consensus statements with available strength of class of recommendation and level of evidence with supporting data and discussion. Figure 2. summarizes the diagnostic and therapeutic decision trees for neonates with PAIVS based on the consensus statement.
Figure 2.
A multi-disciplinary approach is crucial for achieving optimal outcomes in patients with PAIVS. Outcomes depend on the individual patient characteristics and the determination and execution of appropriate triage for neonatal catheter-based and surgical therapy. Independent risk factors for poor outcomes include low birth weight, unipartite RV, RVDCC, especially atresia of the coronary ostia, and single-ventricle palliation. Studies have shown a gradual improvement in survival of patients with this defect. In a Pediatric Intensive Care Society study from 2024, the cumulative risk estimate of death was 10.9%, 16.1%, 16.5 and 18.8% at 1 month, 6 months, 1 year and 5 years respectively.2 In a single-center study published in 2022, the overall survival at 1, 3 and 10 years was 82.4%, 80.6% and 79.8%.3
Much remains to be learned concerning the optimal care of children and adults with PAIVS. Fetal intervention, strategies to increase the size/capacity of the RV, implantation of stem cells to aid in remodeling of the RV and replacing the PV with a viable PV construct are being explored.4 Future investigation and review of outcomes will continue to guide clinical decision making.
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References:
1. Jaggers J, Winlaw D, Fuller S, Sethi N, Kochilas L, Adachi I, Stone M, Browne L, Khoo N, da Cruz E, Petit C, Lapar D, Stout K, Donofrio M, St Louis J: 2025 American Association for Thoracic Surgery Congenital Cardiac Surgery Working Group- Expert consensus document on the management of patients with pulmonary atresia with intact ventricular septum. J Thorac Cardiovasc Surg 2025
2. Iliopoulos I, Mastropietro CW, Flores S, Cheung E, Amula V, Radman M, Kwiatkowski D, Puente BN, Buckley JR, Allen KY, Loomba R, Karki KB, Chiwane S, Cashen K, Piggott K, Kapileshwarkar Y, Gowda KMN, Badheka A, Raman R, Zang H, Costello JM: Pulmonary Atresia with Intact Ventricular Septum: Midterm Outcomes from a Multicenter Cohort. Pediatr Cardiol 2024; 45: 847–857
3. Sukhavasi A, McHugh-Grant S, Glatz AC, Mondal A, Griffis H, Burnham N, Chen JM, Mascio CE, Gaynor JW, Spray TL, Fuller SM: Pulmonary atresia with intact ventricular septum: Intended strategies. J Thorac Cardiovasc Surg 2022; 164: 1277–1288
4. Spigel ZA, Qureshi AM, Adachi I: Stratification of the right ventricle-dependent coronary circulation: Relevance to treatment strategy. J Thorac Cardiovasc Surg 2022; 164: 765–769