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Tetralogy of Fallot with pulmonary stenosis

MedGen UID:
488870
Concept ID:
C0344881
Congenital Abnormality
SNOMED CT: Tetralogy of Fallot with pulmonary stenosis (253512000)
 
HPO: HP:0011679

Definition

The commonest form of tetralogy of Fallot characterized by pulmonary stenosis, overriding aorta, ventricular septum defect, and right ventricular hypertrophy, without pulmonary atresia, absent pulmonary valve, atrioventricular canal defect or absent subarterial conus. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVTetralogy of Fallot with pulmonary stenosis

Conditions with this feature

Neurooculorenal syndrome
MedGen UID:
1841013
Concept ID:
C5830377
Disease or Syndrome
Neurooculorenal syndrome (NORS) is an autosomal recessive developmental disorder with highly variable clinical manifestations involving several organ systems. Some affected individuals present in utero with renal agenesis and structural brain abnormalities incompatible with life, whereas others present in infancy with a neurodevelopmental disorder characterized by global developmental delay and dysmorphic facial features that may be associated with congenital anomalies of the kidney and urinary tract (CAKUT). Additional more variable features may include ocular anomalies, most commonly strabismus, congenital heart defects, and pituitary hormone deficiency. Brain imaging usually shows structural midline defects, including dysgenesis of the corpus callosum and hindbrain. There is variation in the severity, manifestations, and expressivity of the phenotype, even within families (Rasmussen et al., 2018; Munch et al., 2022).

Professional guidelines

PubMed

Expert Consensus Panel:, Miller JR, Stephens EH, Goldstone AB, Glatz AC, Kane L, Van Arsdell GS, Stellin G, Barron DJ, d'Udekem Y, Benson L, Quintessenza J, Ohye RG, Talwar S, Fremes SE, Emani SM, Eghtesady P
J Thorac Cardiovasc Surg 2023 Jan;165(1):221-250. Epub 2022 Oct 26 doi: 10.1016/j.jtcvs.2022.07.025. PMID: 36522807

Recent clinical studies

Etiology

Lyon SM, Ofner S, Cheng P, Powell S, Schloss D, Landis BJ, Cook S, Herrmann JL, Patel JK
Am J Cardiol 2023 Mar 15;191:92-100. Epub 2023 Jan 18 doi: 10.1016/j.amjcard.2022.12.015. PMID: 36669383Free PMC Article
Expert Consensus Panel:, Miller JR, Stephens EH, Goldstone AB, Glatz AC, Kane L, Van Arsdell GS, Stellin G, Barron DJ, d'Udekem Y, Benson L, Quintessenza J, Ohye RG, Talwar S, Fremes SE, Emani SM, Eghtesady P
J Thorac Cardiovasc Surg 2023 Jan;165(1):221-250. Epub 2022 Oct 26 doi: 10.1016/j.jtcvs.2022.07.025. PMID: 36522807
Fang Y, Xiong Z, Wang Y, Li B, Wang Z, Kang D, An Q, Lin K, Luo S
Interact Cardiovasc Thorac Surg 2022 Jan 18;34(2):307-314. doi: 10.1093/icvts/ivab238. PMID: 34542589Free PMC Article
Kwon MH, Bacha EA
Semin Thorac Cardiovasc Surg Pediatr Card Surg Annu 2020;23:24-28. doi: 10.1053/j.pcsu.2020.02.005. PMID: 32354543
Andersen HØ, de Leval MR, Tsang VT, Elliott MJ, Anderson RH, Cook AC
Ann Thorac Surg 2006 Sep;82(3):948-56. doi: 10.1016/j.athoracsur.2006.04.030. PMID: 16928514

Diagnosis

Cunningham ME, Donofrio MT, Peer SM, Zurakowski D, Jonas RA, Sinha P
Ann Thorac Surg 2017 Mar;103(3):845-852. Epub 2016 Sep 28 doi: 10.1016/j.athoracsur.2016.07.020. PMID: 27692918
Opotowsky AR, Loukas B, Ellervik C, Moko LE, Singh MN, Landzberg EI, Rimm EB, Landzberg MJ
World J Pediatr Congenit Heart Surg 2016 Nov;7(6):734-743. doi: 10.1177/2150135116672648. PMID: 27834768Free PMC Article
Oswal N, Christov G, Sridharan S, Khambadkone S, Bull C, Sullivan I
Cardiol Young 2014 Jun;24(3):478-84. Epub 2013 Jun 4 doi: 10.1017/S1047951113000644. PMID: 23732114
Hill G
Congenit Heart Dis 2013 Mar-Apr;8(2):174-7. Epub 2013 Mar 1 doi: 10.1111/chd.12042. PMID: 23448360
Jonas RA
Semin Thorac Cardiovasc Surg Pediatr Card Surg Annu 2009:39-47. doi: 10.1053/j.pcsu.2009.01.021. PMID: 19349012

Therapy

Expert Consensus Panel:, Miller JR, Stephens EH, Goldstone AB, Glatz AC, Kane L, Van Arsdell GS, Stellin G, Barron DJ, d'Udekem Y, Benson L, Quintessenza J, Ohye RG, Talwar S, Fremes SE, Emani SM, Eghtesady P
J Thorac Cardiovasc Surg 2023 Jan;165(1):221-250. Epub 2022 Oct 26 doi: 10.1016/j.jtcvs.2022.07.025. PMID: 36522807
Kim H, Sung SC, Choi KH, Lee HD, Kim G, Ko H, Lee YS
Eur J Cardiothorac Surg 2018 Jun 1;53(6):1223-1229. doi: 10.1093/ejcts/ezx497. PMID: 29365090
Sullivan RT, Frommelt PC, Hill GD
Pediatr Cardiol 2017 Aug;38(6):1251-1256. Epub 2017 Jun 14 doi: 10.1007/s00246-017-1653-2. PMID: 28616649
Hill G
Congenit Heart Dis 2013 Mar-Apr;8(2):174-7. Epub 2013 Mar 1 doi: 10.1111/chd.12042. PMID: 23448360
Andersen HØ, de Leval MR, Tsang VT, Elliott MJ, Anderson RH, Cook AC
Ann Thorac Surg 2006 Sep;82(3):948-56. doi: 10.1016/j.athoracsur.2006.04.030. PMID: 16928514

Prognosis

Fang Y, Xiong Z, Wang Y, Li B, Wang Z, Kang D, An Q, Lin K, Luo S
Interact Cardiovasc Thorac Surg 2022 Jan 18;34(2):307-314. doi: 10.1093/icvts/ivab238. PMID: 34542589Free PMC Article
Cunningham ME, Donofrio MT, Peer SM, Zurakowski D, Jonas RA, Sinha P
Ann Thorac Surg 2017 Mar;103(3):845-852. Epub 2016 Sep 28 doi: 10.1016/j.athoracsur.2016.07.020. PMID: 27692918
Ross ET, Costello JM, Backer CL, Brown LM, Robinson JD
Ann Thorac Surg 2015 Apr;99(4):1367-72. Epub 2015 Feb 27 doi: 10.1016/j.athoracsur.2014.12.031. PMID: 25728964
Hill G
Congenit Heart Dis 2013 Mar-Apr;8(2):174-7. Epub 2013 Mar 1 doi: 10.1111/chd.12042. PMID: 23448360
Andersen HØ, de Leval MR, Tsang VT, Elliott MJ, Anderson RH, Cook AC
Ann Thorac Surg 2006 Sep;82(3):948-56. doi: 10.1016/j.athoracsur.2006.04.030. PMID: 16928514

Clinical prediction guides

Expert Consensus Panel:, Miller JR, Stephens EH, Goldstone AB, Glatz AC, Kane L, Van Arsdell GS, Stellin G, Barron DJ, d'Udekem Y, Benson L, Quintessenza J, Ohye RG, Talwar S, Fremes SE, Emani SM, Eghtesady P
J Thorac Cardiovasc Surg 2023 Jan;165(1):221-250. Epub 2022 Oct 26 doi: 10.1016/j.jtcvs.2022.07.025. PMID: 36522807
Fang Y, Xiong Z, Wang Y, Li B, Wang Z, Kang D, An Q, Lin K, Luo S
Interact Cardiovasc Thorac Surg 2022 Jan 18;34(2):307-314. doi: 10.1093/icvts/ivab238. PMID: 34542589Free PMC Article
Kim H, Sung SC, Choi KH, Lee HD, Kim G, Ko H, Lee YS
Eur J Cardiothorac Surg 2018 Jun 1;53(6):1223-1229. doi: 10.1093/ejcts/ezx497. PMID: 29365090
Ross ET, Costello JM, Backer CL, Brown LM, Robinson JD
Ann Thorac Surg 2015 Apr;99(4):1367-72. Epub 2015 Feb 27 doi: 10.1016/j.athoracsur.2014.12.031. PMID: 25728964
Hill G
Congenit Heart Dis 2013 Mar-Apr;8(2):174-7. Epub 2013 Mar 1 doi: 10.1111/chd.12042. PMID: 23448360

Recent systematic reviews

Zhao Y, Abuhamad A, Fleenor J, Guo Y, Zhang W, Cao D, Zeng S, Sinkovskaya E, Zhou Q
J Ultrasound Med 2016 May;35(5):905-15. Epub 2016 Mar 28 doi: 10.7863/ultra.15.04055. PMID: 27022172

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