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Transitional atrioventricular canal defect

MedGen UID:
868878
Concept ID:
C4023289
Congenital Abnormality
HPO: HP:0011578

Definition

A specific combination of heart defects with a primum atrial septal defect, cleft anterior mitral valve leaflet, and an inlet ventricular septal defect. There are two valve annuli and two valve orifices. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVTransitional atrioventricular canal defect

Recent clinical studies

Etiology

Gellis L, McGeoghegan P, Lu M, Feins E, Sleeper L, Emani S, Friedman K, Baird C
J Thorac Cardiovasc Surg 2023 Oct;166(4):1168-1177. Epub 2023 May 7 doi: 10.1016/j.jtcvs.2023.04.004. PMID: 37160215
Nakayama Y, Shinkawa T, Hoki R, Kobayashi K, Yoshida H, Sato Y, Niinami H
World J Pediatr Congenit Heart Surg 2022 Jul;13(4):451-457. doi: 10.1177/21501351221100140. PMID: 35757952
Krupickova S, Morgan GJ, Cheang MH, Rigby ML, Franklin RC, Battista A, Spanaki A, Bonello B, Ghez O, Anderson D, Tsang V, Michielon G, Marek J, Fraisse A
Heart 2018 Sep;104(17):1411-1416. Epub 2017 Dec 28 doi: 10.1136/heartjnl-2017-312195. PMID: 29288192
Tishler B, Gauvreau K, Colan SD, Del Nido P, Nathan M
Ann Thorac Surg 2018 May;105(5):1461-1468. Epub 2017 Dec 19 doi: 10.1016/j.athoracsur.2017.11.043. PMID: 29269131
Jacobs JP, Burke RP, Quintessenza JA, Mavroudis C
Ann Thorac Surg 2000 Apr;69(4 Suppl):S36-43. doi: 10.1016/s0003-4975(99)01235-7. PMID: 10798414

Diagnosis

Riggs KW, Chin CW, Bryant R, Zafar F, Chin C, Schecter MG, Morales DLS
World J Pediatr Congenit Heart Surg 2021 Jan;12(1):136-138. Epub 2019 Apr 24 doi: 10.1177/2150135118815876. PMID: 31018757
Krupickova S, Morgan GJ, Cheang MH, Rigby ML, Franklin RC, Battista A, Spanaki A, Bonello B, Ghez O, Anderson D, Tsang V, Michielon G, Marek J, Fraisse A
Heart 2018 Sep;104(17):1411-1416. Epub 2017 Dec 28 doi: 10.1136/heartjnl-2017-312195. PMID: 29288192
Tishler B, Gauvreau K, Colan SD, Del Nido P, Nathan M
Ann Thorac Surg 2018 May;105(5):1461-1468. Epub 2017 Dec 19 doi: 10.1016/j.athoracsur.2017.11.043. PMID: 29269131
Davey B, Thacker D, Rychik J
Pediatr Cardiol 2013;34(8):1797-802. Epub 2013 May 12 doi: 10.1007/s00246-013-0711-7. PMID: 23666083Free PMC Article
Jacobs JP, Burke RP, Quintessenza JA, Mavroudis C
Ann Thorac Surg 2000 Apr;69(4 Suppl):S36-43. doi: 10.1016/s0003-4975(99)01235-7. PMID: 10798414

Therapy

Gellis L, McGeoghegan P, Lu M, Feins E, Sleeper L, Emani S, Friedman K, Baird C
J Thorac Cardiovasc Surg 2023 Oct;166(4):1168-1177. Epub 2023 May 7 doi: 10.1016/j.jtcvs.2023.04.004. PMID: 37160215
Mery CM, Zea-Vera R, Chacon-Portillo MA, Zhang W, Binder MS, Kyle WB, Adachi I, Heinle JS, Fraser CD Jr
J Thorac Cardiovasc Surg 2019 Mar;157(3):1117-1127.e4. Epub 2018 Nov 24 doi: 10.1016/j.jtcvs.2018.10.154. PMID: 31079807
Krupickova S, Morgan GJ, Cheang MH, Rigby ML, Franklin RC, Battista A, Spanaki A, Bonello B, Ghez O, Anderson D, Tsang V, Michielon G, Marek J, Fraisse A
Heart 2018 Sep;104(17):1411-1416. Epub 2017 Dec 28 doi: 10.1136/heartjnl-2017-312195. PMID: 29288192
Kaza AK, Colan SD, Jaggers J, Lu M, Atz AM, Sleeper LA, McCrindle BW, Lambert LM, Margossian R, Lacro RV, Richmond ME, Natarajan S, Minich LL; Pediatric Heart Network Investigators
Ann Thorac Surg 2011 Oct;92(4):1468-75; discussion 1475. Epub 2011 Aug 26 doi: 10.1016/j.athoracsur.2011.04.109. PMID: 21872212Free PMC Article
Malhotra SP, Lacour-Gayet F, Mitchell MB, Clarke DR, Dines ML, Campbell DN
Ann Thorac Surg 2008 Jul;86(1):147-51; discussion 151-2. doi: 10.1016/j.athoracsur.2008.03.040. PMID: 18573414

Prognosis

Gellis L, McGeoghegan P, Lu M, Feins E, Sleeper L, Emani S, Friedman K, Baird C
J Thorac Cardiovasc Surg 2023 Oct;166(4):1168-1177. Epub 2023 May 7 doi: 10.1016/j.jtcvs.2023.04.004. PMID: 37160215
Mery CM, Zea-Vera R, Chacon-Portillo MA, Zhang W, Binder MS, Kyle WB, Adachi I, Heinle JS, Fraser CD Jr
J Thorac Cardiovasc Surg 2019 Mar;157(3):1117-1127.e4. Epub 2018 Nov 24 doi: 10.1016/j.jtcvs.2018.10.154. PMID: 31079807
Krupickova S, Morgan GJ, Cheang MH, Rigby ML, Franklin RC, Battista A, Spanaki A, Bonello B, Ghez O, Anderson D, Tsang V, Michielon G, Marek J, Fraisse A
Heart 2018 Sep;104(17):1411-1416. Epub 2017 Dec 28 doi: 10.1136/heartjnl-2017-312195. PMID: 29288192
Tishler B, Gauvreau K, Colan SD, Del Nido P, Nathan M
Ann Thorac Surg 2018 May;105(5):1461-1468. Epub 2017 Dec 19 doi: 10.1016/j.athoracsur.2017.11.043. PMID: 29269131
Minich LL, Atz AM, Colan SD, Sleeper LA, Mital S, Jaggers J, Margossian R, Prakash A, Li JS, Cohen MS, Lacro RV, Klein GL, Hawkins JA; Pediatric Heart Network Investigators
Ann Thorac Surg 2010 Feb;89(2):530-6. doi: 10.1016/j.athoracsur.2009.10.047. PMID: 20103337Free PMC Article

Clinical prediction guides

Gellis L, McGeoghegan P, Lu M, Feins E, Sleeper L, Emani S, Friedman K, Baird C
J Thorac Cardiovasc Surg 2023 Oct;166(4):1168-1177. Epub 2023 May 7 doi: 10.1016/j.jtcvs.2023.04.004. PMID: 37160215
Zhu J, Zhang Y, Bao C, Ding F, Mei J
J Cardiothorac Surg 2022 Jan 15;17(1):5. doi: 10.1186/s13019-022-01753-6. PMID: 35033146Free PMC Article
Krupickova S, Morgan GJ, Cheang MH, Rigby ML, Franklin RC, Battista A, Spanaki A, Bonello B, Ghez O, Anderson D, Tsang V, Michielon G, Marek J, Fraisse A
Heart 2018 Sep;104(17):1411-1416. Epub 2017 Dec 28 doi: 10.1136/heartjnl-2017-312195. PMID: 29288192
Tishler B, Gauvreau K, Colan SD, Del Nido P, Nathan M
Ann Thorac Surg 2018 May;105(5):1461-1468. Epub 2017 Dec 19 doi: 10.1016/j.athoracsur.2017.11.043. PMID: 29269131
Minich LL, Atz AM, Colan SD, Sleeper LA, Mital S, Jaggers J, Margossian R, Prakash A, Li JS, Cohen MS, Lacro RV, Klein GL, Hawkins JA; Pediatric Heart Network Investigators
Ann Thorac Surg 2010 Feb;89(2):530-6. doi: 10.1016/j.athoracsur.2009.10.047. PMID: 20103337Free PMC Article

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