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Pulmonary atresia with intact ventricular septum

MedGen UID:
87491
•Concept ID:
C0344975
•
Congenital Abnormality
Synonyms: Pulmonary Atresia with Intact Ventricular Septum
SNOMED CT: PAIV - Pulmonary atresia with intact ventricular septum (253590009); Pulmonary atresia with intact ventricular septum (253590009)
 
OMIM®: 265150
Orphanet: ORPHA1208

Definition

Critical congenital heart disease (CCHD) is a term that refers to a group of serious heart defects that are present from birth. These abnormalities result from problems with the formation of one or more parts of the heart during the early stages of embryonic development. CCHD prevents the heart from pumping blood effectively or reduces the amount of oxygen in the blood. As a result, organs and tissues throughout the body do not receive enough oxygen, which can lead to organ damage and life-threatening complications. Individuals with CCHD usually require surgery soon after birth.Although babies with CCHD may appear healthy for the first few hours or days of life, signs and symptoms soon become apparent. These can include an abnormal heart sound during a heartbeat (heart murmur), rapid breathing (tachypnea), low blood pressure (hypotension), low levels of oxygen in the blood (hypoxemia), and a blue or purple tint to the skin caused by a shortage of oxygen (cyanosis). If untreated, CCHD can lead to shock, coma, and death. However, most people with CCHD now survive past infancy due to improvements in early detection, diagnosis, and treatment.Some people with treated CCHD have few related health problems later in life. However, long-term effects of CCHD can include delayed development and reduced stamina during exercise. Adults with these heart defects have an increased risk of abnormal heart rhythms, heart failure, sudden cardiac arrest, stroke, and premature death.Each of the heart defects associated with CCHD affects the flow of blood into, out of, or through the heart. Some of the heart defects involve structures within the heart itself, such as the two lower chambers of the heart (the ventricles) or the valves that control blood flow through the heart. Others affect the structure of the large blood vessels leading into and out of the heart (including the aorta and pulmonary artery). Still others involve a combination of these structural abnormalities.People with CCHD have one or more specific heart defects. The heart defects classified as CCHD include coarctation of the aorta, double-outlet right ventricle, D-transposition of the great arteries, Ebstein anomaly, hypoplastic left heart syndrome, interrupted aortic arch, pulmonary atresia with intact septum, single ventricle, total anomalous pulmonary venous connection, tetralogy of Fallot, tricuspid atresia, and truncus arteriosus.
[from GHR]

Clinical features

Hypoplastic right heart
MedGen UID:
451017
•Concept ID:
C0265856
•
Disease or Syndrome
Underdevelopment of the right-sided structures of the heart.
See: Feature record | Search on this feature
Pulmonary artery atresia
MedGen UID:
82723
•Concept ID:
C0265908
•
Congenital Abnormality
A congenital anomaly with a narrowing or complete absence of the opening between the right ventricle and the pulmonary artery.
See: Feature record | Search on this feature
Pulmonary artery atresia
MedGen UID:
82723
•Concept ID:
C0265908
•
Congenital Abnormality
A congenital anomaly with a narrowing or complete absence of the opening between the right ventricle and the pulmonary artery.
See: Feature record | Search on this feature
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Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPulmonary atresia with intact ventricular septum
Follow this link to review classifications for Pulmonary atresia with intact ventricular septum in Orphanet.

Recent clinical studies

Etiology

Pulmonary atresia with intact ventricular septum and coronary cameral fistulae: an unusual finding of a subsystemic right ventricle.
Mohan S, Weinberg PM, Glatz AC
Cardiol Young 2016 Jun;26(5):979-82. Epub 2016 Jan 22 doi: 10.1017/S1047951115002711. PMID: 26796991
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.
Kim MJ, Yu JJ, Kang SY, Seo CD, Baek JS, Kim YH, Ko JK
Cardiol Young 2015 Jan;25(1):129-36. Epub 2014 Jul 15 doi: 10.1017/S1047951114001206. PMID: 25022783
More than 25 years of experience in managing pulmonary atresia with intact ventricular septum.
Schneider AW, Blom NA, Bruggemans EF, Hazekamp MG
Ann Thorac Surg 2014 Nov;98(5):1680-6. Epub 2014 Aug 19 doi: 10.1016/j.athoracsur.2014.05.085. PMID: 25149048
Hybrid approach for pulmonary atresia with intact ventricular septum: early single center results and comparison to the standard surgical approach.
Zampi JD, Hirsch-Romano JC, Goldstein BH, Shaya JA, Armstrong AK
Catheter Cardiovasc Interv 2014 Apr 1;83(5):753-61. Epub 2014 Jan 8 doi: 10.1002/ccd.25181. PMID: 23996932
Exercise capacity and cardiac reserve in children and adolescents with corrected pulmonary atresia with intact ventricular septum after univentricular palliation and biventricular repair.
Romeih S, Groenink M, Roest AA, van der Plas MN, Hazekamp MG, Mulder BJ, Blom NA
J Thorac Cardiovasc Surg 2012 Mar;143(3):569-75. Epub 2011 Sep 9 doi: 10.1016/j.jtcvs.2011.08.012. PMID: 21908009

Diagnosis

Coil occlusion of aberrant arteries to pulmonary sequestration in a case with pulmonary atresia with intact ventricular septum: successful treatment of repetitive myocardial ischaemic attacks.
Ono A, Hayabuchi Y, Kagami S
Cardiol Young 2017 Jan;27(1):193-195. Epub 2016 Oct 5 doi: 10.1017/S1047951116001037. PMID: 27702416
Platypnea-Orthodeoxia Syndrome Two Decades after Definitive Surgical Repair of Pulmonary Atresia with Intact Ventricular Septum.
Lee ML, Chiu IS
Yonsei Med J 2016 May;57(3):799-802. doi: 10.3349/ymj.2016.57.3.799. PMID: 26996585Free PMC Article
Large Right Ventricular Clot in Pulmonary Atresia With Intact Ventricular Septum: In Defense of Biventricular Approach.
Dutta N, Ghosh R, Awasthy N, Iyer PU, Girotra S, Iyer KS
World J Pediatr Congenit Heart Surg 2016 Sep;7(5):658-60. Epub 2016 Feb 16 doi: 10.1177/2150135115608088. PMID: 26884452
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.
Kim MJ, Yu JJ, Kang SY, Seo CD, Baek JS, Kim YH, Ko JK
Cardiol Young 2015 Jan;25(1):129-36. Epub 2014 Jul 15 doi: 10.1017/S1047951114001206. PMID: 25022783
Exercise capacity and cardiac reserve in children and adolescents with corrected pulmonary atresia with intact ventricular septum after univentricular palliation and biventricular repair.
Romeih S, Groenink M, Roest AA, van der Plas MN, Hazekamp MG, Mulder BJ, Blom NA
J Thorac Cardiovasc Surg 2012 Mar;143(3):569-75. Epub 2011 Sep 9 doi: 10.1016/j.jtcvs.2011.08.012. PMID: 21908009

Therapy

Transventricular valvotomy for pulmonary atresia with intact ventricular septum in neonates: a single-centre experience in mid-term follow-up.
Hu R, Zhang H, Dong W, Liu X, Xu Z, Liu J
Eur J Cardiothorac Surg 2015 Jan;47(1):168-72. Epub 2014 Mar 17 doi: 10.1093/ejcts/ezu085. PMID: 24639451
Hybrid approach for pulmonary atresia with intact ventricular septum: early single center results and comparison to the standard surgical approach.
Zampi JD, Hirsch-Romano JC, Goldstein BH, Shaya JA, Armstrong AK
Catheter Cardiovasc Interv 2014 Apr 1;83(5):753-61. Epub 2014 Jan 8 doi: 10.1002/ccd.25181. PMID: 23996932
Balloon valvuloplasty through the right ventricle: another treatment of pulmonary atresia with intact ventricular septum.
Li QZ, Cao H, Chen Q, Zhang GC, Chen LW, Chen DZ
Ann Thorac Surg 2013 May;95(5):1670-4. Epub 2013 Mar 15 doi: 10.1016/j.athoracsur.2013.02.003. PMID: 23506634
Pulmonary atresia with intact ventricular septum and right ventricular dependent coronary circulation through the "vessels of Wearn".
Ahmed AA, Snodgrass BT, Kaine S
Cardiovasc Pathol 2013 Jul-Aug;22(4):298-302. Epub 2013 Jan 16 doi: 10.1016/j.carpath.2012.12.004. PMID: 23332812
Exercise capacity and cardiac reserve in children and adolescents with corrected pulmonary atresia with intact ventricular septum after univentricular palliation and biventricular repair.
Romeih S, Groenink M, Roest AA, van der Plas MN, Hazekamp MG, Mulder BJ, Blom NA
J Thorac Cardiovasc Surg 2012 Mar;143(3):569-75. Epub 2011 Sep 9 doi: 10.1016/j.jtcvs.2011.08.012. PMID: 21908009

Prognosis

More than 25 years of experience in managing pulmonary atresia with intact ventricular septum.
Schneider AW, Blom NA, Bruggemans EF, Hazekamp MG
Ann Thorac Surg 2014 Nov;98(5):1680-6. Epub 2014 Aug 19 doi: 10.1016/j.athoracsur.2014.05.085. PMID: 25149048
Pulmonary atresia with intact ventricular septum and right ventricular dependent coronary circulation through the "vessels of Wearn".
Ahmed AA, Snodgrass BT, Kaine S
Cardiovasc Pathol 2013 Jul-Aug;22(4):298-302. Epub 2013 Jan 16 doi: 10.1016/j.carpath.2012.12.004. PMID: 23332812
Transcatheter management of neonates with pulmonary atresia with intact ventricular septum: a single center experience from Turkey.
Odemis E, Ozyilmaz I, Guzeltas A, Erek E, Haydin S, Bakır I
Artif Organs 2013 Jan;37(1):E56-61. doi: 10.1111/aor.12034. PMID: 23305587
Exercise capacity and cardiac reserve in children and adolescents with corrected pulmonary atresia with intact ventricular septum after univentricular palliation and biventricular repair.
Romeih S, Groenink M, Roest AA, van der Plas MN, Hazekamp MG, Mulder BJ, Blom NA
J Thorac Cardiovasc Surg 2012 Mar;143(3):569-75. Epub 2011 Sep 9 doi: 10.1016/j.jtcvs.2011.08.012. PMID: 21908009
Muscular infundibular atresia is associated with coronary ostial atresia in pulmonary atresia with intact ventricular septum.
Kipps AK, Powell AJ, Levine JC
Congenit Heart Dis 2011 Sep-Oct;6(5):444-50. Epub 2011 Jul 1 doi: 10.1111/j.1747-0803.2011.00541.x. PMID: 21718454

Clinical prediction guides

More than 25 years of experience in managing pulmonary atresia with intact ventricular septum.
Schneider AW, Blom NA, Bruggemans EF, Hazekamp MG
Ann Thorac Surg 2014 Nov;98(5):1680-6. Epub 2014 Aug 19 doi: 10.1016/j.athoracsur.2014.05.085. PMID: 25149048
Catheter-based treatment in patients with critical pulmonary stenosis or pulmonary atresia with intact ventricular septum: a single institute experience with comparison between patients with and without additional procedure for pulmonary flow.
Cho MJ, Ban KH, Kim MJ, Park JA, Lee HD
Congenit Heart Dis 2013 Sep-Oct;8(5):440-9. Epub 2013 Apr 22 doi: 10.1111/chd.12063. PMID: 23602004
Long-term functional health status and exercise test variables for patients with pulmonary atresia with intact ventricular septum: a Congenital Heart Surgeons Society study.
Karamlou T, Poynter JA, Walters HL 3rd, Rhodes J, Bondarenko I, Pasquali SK, Fuller SM, Lambert LM, Blackstone EH, Jacobs ML, Duncan K, Caldarone CA, Williams WG, McCrindle BW
J Thorac Cardiovasc Surg 2013 Apr;145(4):1018-25; discussion 1025-7. Epub 2013 Jan 29 doi: 10.1016/j.jtcvs.2012.11.092. PMID: 23374986Free PMC Article
Exercise capacity and cardiac reserve in children and adolescents with corrected pulmonary atresia with intact ventricular septum after univentricular palliation and biventricular repair.
Romeih S, Groenink M, Roest AA, van der Plas MN, Hazekamp MG, Mulder BJ, Blom NA
J Thorac Cardiovasc Surg 2012 Mar;143(3):569-75. Epub 2011 Sep 9 doi: 10.1016/j.jtcvs.2011.08.012. PMID: 21908009
Muscular infundibular atresia is associated with coronary ostial atresia in pulmonary atresia with intact ventricular septum.
Kipps AK, Powell AJ, Levine JC
Congenit Heart Dis 2011 Sep-Oct;6(5):444-50. Epub 2011 Jul 1 doi: 10.1111/j.1747-0803.2011.00541.x. PMID: 21718454

Recent systematic reviews

Biventricular repair versus uni-ventricular repair for pulmonary atresia with intact ventrical septum: A systematic review.
Li FF, Du XL, Chen S
J Huazhong Univ Sci Technolog Med Sci 2015 Oct;35(5):656-61. Epub 2015 Oct 22 doi: 10.1007/s11596-015-1485-3. PMID: 26489617
Disease-specific outcome analysis of palliation with the modified Blalock-Taussig shunt.
Bove T, Vandekerckhove K, Panzer J, De Groote K, De Wolf D, François K
World J Pediatr Congenit Heart Surg 2015 Jan;6(1):67-74. doi: 10.1177/2150135114558690. PMID: 25548346
Hybrid approach for pulmonary atresia with intact ventricular septum: early single center results and comparison to the standard surgical approach.
Zampi JD, Hirsch-Romano JC, Goldstein BH, Shaya JA, Armstrong AK
Catheter Cardiovasc Interv 2014 Apr 1;83(5):753-61. Epub 2014 Jan 8 doi: 10.1002/ccd.25181. PMID: 23996932
Longevity of neonatal ductal stenting for congenital heart diseases with duct-dependent pulmonary circulation.
Sivakumar K, Bhagyavathy A, Coelho R, Satish R, Krishnan P
Congenit Heart Dis 2012 Nov-Dec;7(6):526-33. Epub 2012 Apr 30 doi: 10.1111/j.1747-0803.2012.00657.x. PMID: 22548982
Long-term results of catheter-based treatment of pulmonary atresia and intact ventricular septum.
Marasini M, Gorrieri PF, Tuo G, Zannini L, Guido P, Pellegrini M, Bondanza S, Calevo MG, Pongiglione G
Heart 2009 Sep;95(18):1520-4. Epub 2009 May 28 doi: 10.1136/hrt.2009.169078. PMID: 19482848

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