History and Physical Examination

History

Infants with pulmonary atresia with intact ventricular septum (PAIVS) are usually born at term, and cyanosis is apparent within hours. The diagnosis can be made prenatally using fetal echocardiography. These babies develop early progressive cyanosis and tachypnea associated with closure of the patent ductus arteriosus.

Physical examination

The most common finding upon physical examination is central (perioral and periorbital) cyanosis. Following ductal closure, profound generalized cyanosis is present. Also note the following:

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 but can be bounding in the setting of a large patent ductus arteriosus and increased pulmonary blood flow.
Hepatomegaly is uncommon unless the atrial septal defect is restrictive (rare).

Differential Diagnoses

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. 1983 Mar 15. 51(6):932-5. [QxMD MEDLINE Link].
Li FF, Du XL, Chen S. Biventricular repair versus uni-ventricular repair for pulmonary atresia with intact ventrical septum: a systematic review. J Huazhong Univ Sci Technolog Med Sci. 2015 Oct. 35(5):656-61. [QxMD MEDLINE Link].
Karamlou T, Poynter JA, Walters HL 3rd, et al. Long-term functional health status and exercise test variables for patients with pulmonary atresia with intact ventricular septum: a Congenital Heart Surgeons Society study. J Thorac Cardiovasc Surg. 2013 Apr. 145(4):1018-25; discussion 1025-7. [QxMD MEDLINE Link].
Kenny D, Berman D, Zahn E, Amin Z. Variable approaches to arterial ductal stenting in infants with complex congenital heart disease. Catheter Cardiovasc Interv. 2012 Jan 1. 79(1):125-30. [QxMD MEDLINE Link]. [Full Text].
Mallula K, Vaughn G, El-Said H, Lamberti JJ, Moore JW. Comparison of ductal stenting versus surgical shunts for palliation of patients with pulmonary atresia and intact ventricular septum. Catheter Cardiovasc Interv. 2015 Jun. 85(7):1196-202. [QxMD MEDLINE Link].
Ford AA, Wylie BJ, Waksmonski CA, Simpson LL. Maternal congenital cardiac disease: outcomes of pregnancy in a single tertiary care center. Obstet Gynecol. 2008 Oct. 112(4):828-33. [QxMD MEDLINE Link].
Burch TM, Mizuguchi KA, Wesley MC, Swanson TM, Dinardo JA. Echocardiographic features of pulmonary atresia with intact ventricular septum. Anesth Analg. 2008 Nov. 107(5):1509-11. [QxMD MEDLINE Link].
Weber HS. Initial and late results after catheter intervention for neonatal critical pulmonary valve stenosis and atresia with intact ventricular septum: a technique in continual evolution. Catheter Cardiovasc Interv. 2002 Jul. 56(3):394-9. [QxMD MEDLINE Link].
Ronai C, Rathod RH, Marshall AC, et al. Left ventricular dysfunction following neonatal pulmonary valve balloon dilation for pulmonary atresia or critical pulmonary stenosis. Pediatr Cardiol. 2015 Aug. 36(6):1186-93. [QxMD MEDLINE Link].
Schneider AW, Blom NA, Bruggemans EF, Hazekamp MG. More than 25 years of experience in managing pulmonary atresia with intact ventricular septum. Ann Thorac Surg. 2014 Nov. 98(5):1680-6. [QxMD MEDLINE Link].
Ekman-Joelsson BM, Gustafsson PM, Sunnegardh J. Exercise performance after surgery for pulmonary atresia and intact ventricular septum. Pediatr Cardiol. 2009 Aug. 30(6):752-62. [QxMD MEDLINE Link].
Rathgeber S, Auld B, Duncombe S, Hosking MC, Harris KC. Outcomes of radiofrequency perforation for pulmonary atresia and intact ventricular septum: a single-centre experience. Pediatr Cardiol. 2017 Jan. 38(1):170-5. [QxMD MEDLINE Link].
Zheng J, Gao B, Zhu Z, et al. Surgical results for pulmonary atresia with intact ventricular septum: a single-centre 15-year experience and medium-term follow-up. Eur J Cardiothorac Surg. 2016 Dec. 50(6):1083-8. [QxMD MEDLINE Link].
Hogan WJ, Grinenco S, Armstrong A, et al, for the IFCIR Participants. Fetal cardiac intervention for pulmonary atresia with intact ventricular septum: International Fetal Cardiac Intervention Registry. Fetal Diagn Ther. 2020 Jul 7. 1-9. [QxMD MEDLINE Link]. [Full Text].
Pang C, Zhou C, Zhang Z, et al. Fetal pulmonary valvuloplasty in fetuses with right ventricular outflow tract obstructive disease: experience and outcome of the first five cases in China. Pediatr Cardiol. 2020 Oct 22. [QxMD MEDLINE Link].
Li QZ, Cao H, Chen Q, Zhang GC, Chen LW, Chen DZ. Balloon valvuloplasty through the right ventricle: another treatment of pulmonary atresia with intact ventricular septum. Ann Thorac Surg. 2013 May. 95(5):1670-4. [QxMD MEDLINE Link].
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. 2005 Oct. 130(4):1207-8. [QxMD MEDLINE Link].
Chubb H, Pesonen E, Sivasubramanian S, et al. Long-term outcome following catheter valvotomy for pulmonary atresia with intact ventricular septum. J Am Coll Cardiol. 2012 Apr 17. 59(16):1468-76. [QxMD MEDLINE Link].
Hasan BS, Bautista-Hernandez V, McElhinney DB, et al. Outcomes of transcatheter approach for initial treatment of pulmonary atresia with intact ventricular septum. Catheter Cardiovasc Interv. 2013 Jan 1. 81(1):111-8. [QxMD MEDLINE Link].
Agnoletti G, Piechaud JF, Bonhoeffer P, et al. Perforation of the atretic pulmonary valve. Long-term follow-up. J Am Coll Cardiol. 2003 Apr 16. 41(8):1399-403. [QxMD MEDLINE Link].
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. 2000 Feb. 35(2):468-76. [QxMD MEDLINE Link].
Ansari A, Goltz D, McCarthy KP, et al. The conduction system in hearts with pulmonary atresia and intact ventricular septum. Ann Thorac Surg. 2003 May. 75(5):1502-5. [QxMD MEDLINE Link].
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. 2004 Apr. 127(4):1000-7; discussion 1007-8. [QxMD MEDLINE Link].
Bichell DP. Evaluation and management of pulmonary atresia with intact ventricular septum. Curr Opin Cardiol. 1999 Jan. 14(1):60-6. [QxMD MEDLINE Link].
Bonnet D, Gautier-Lhermitte I, Bonhoeffer P, Sidi D. Right ventricular myocardial sinusoidal-coronary artery connections in critical pulmonary valve stenosis. Pediatr Cardiol. 1998 May-Jun. 19(3):269-71. [QxMD MEDLINE Link].
Calder AL, 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. 2007 Aug. 17(4):387-96. [QxMD MEDLINE Link].
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. 1992 Feb 1. 42(3):304-6. [QxMD MEDLINE Link].
Choi YH, Seo JW, Choi JY, et al. Morphology of tricuspid valve in pulmonary atresia with intact ventricular septum. Pediatr Cardiol. 1998 Sep-Oct. 19(5):381-9. [QxMD MEDLINE Link].
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. 2005 Oct. 130(4):1071. [QxMD MEDLINE Link].
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. 2004 Jun. 14(3):299-308. [QxMD MEDLINE Link].
Freedom RM. Pulmonary atresia and intact ventricular septum. In: Moss AJ, Adams FH, Emmanouilides GC, eds. Moss and Adams Heart Disease in Infants, Children, and Adolescents. 5th ed. Baltimore: Williams & Wilkins; 1995. 962-83.
Humpl T, Soderberg B, McCrindle BW, et al. Percutaneous balloon valvotomy in pulmonary atresia with intact ventricular septum: impact on patient care. Circulation. 2003 Aug 19. 108(7):826-32. [QxMD MEDLINE Link].
Kreutzer C, Mayorquim RC, Kreutzer GO, et al. Experience with one and a half ventricle repair. J Thorac Cardiovasc Surg. 1999 Apr. 117(4):662-8. [QxMD MEDLINE Link].
McLean KM, Pearl JM. Pulmonary atresia with intact ventricular septum: initial management. Ann Thorac Surg. 2006 Dec. 82(6):2214-9; discussion 2219-20. [QxMD MEDLINE Link].
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. 2000 Mar. 48(3):145-52. [QxMD MEDLINE Link].
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):678-84. [QxMD MEDLINE Link].
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):659-65. [QxMD MEDLINE Link].
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. [QxMD MEDLINE Link].
Sano S, Ishino K, Kawada M, et al. Staged biventricular repair of pulmonary atresia or stenosis with intact ventricular septum. Ann Thorac Surg. 2000 Nov. 70(5):1501-6. [QxMD MEDLINE Link].
Satou GM, Perry SB, Gauvreau K, Geva T. Echocardiographic predictors of coronary artery pathology in pulmonary atresia with intact ventricular septum. Am J Cardiol. 2000 Jun 1. 85(11):1319-24. [QxMD MEDLINE Link].
Hu R, Zhang H, Dong W, Liu X, Xu Z, Liu J. Transventricular valvotomy for pulmonary atresia with intact ventricular septum in neonates: a single-centre experience in mid-term follow-up. Eur J Cardiothorac Surg. 2015 Jan. 47 (1):168-72. [QxMD MEDLINE Link].
Kim MJ, Yu JJ, Kang SY, et al. Comparison of the offset distance of the tricuspid septal leaflet in neonates with Ebstein's anomaly and neonates with pulmonary atresia with intact ventricular septum. Cardiol Young. 2015 Jan. 25 (1):129-36. [QxMD MEDLINE Link].
Sugiyama H, Fujimoto K, Ishii T, Nakanishi T, Tomita H. Impact of novel balloon catheter on static balloon atrial septostomy with double balloon technique in infants with congenital heart disease. Circ J. 2015 Oct 23. 79 (11):2367-71. [QxMD MEDLINE Link].