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Congenital malformation of the right heart

MedGen UID:
868809
•Concept ID:
C4023219
•
Congenital Abnormality
HPO: HP:0011723

Definition

Defect or defects of the morphogenesis of the right heart identifiable at birth. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCongenital malformation of the right heart

Professional guidelines

PubMed

2023 ESC Guidelines for the management of cardiomyopathies.
Arbelo E, Protonotarios A, Gimeno JR, Arbustini E, Barriales-Villa R, Basso C, Bezzina CR, Biagini E, Blom NA, de Boer RA, De Winter T, Elliott PM, Flather M, Garcia-Pavia P, Haugaa KH, Ingles J, Jurcut RO, Klaassen S, Limongelli G, Loeys B, Mogensen J, Olivotto I, Pantazis A, Sharma S, Van Tintelen JP, Ware JS, Kaski JP; ESC Scientific Document Group
Eur Heart J 2023 Oct 1;44(37):3503-3626. doi: 10.1093/eurheartj/ehad194. PMID: 37622657
International consensus statement on nomenclature and classification of the congenital bicuspid aortic valve and its aortopathy, for clinical, surgical, interventional and research purposes.
Michelena HI, Della Corte A, Evangelista A, Maleszewski JJ, Edwards WD, Roman MJ, Devereux RB, Fernández B, Asch FM, Barker AJ, Sierra-Galan LM, De Kerchove L, Fernandes SM, Fedak PWM, Girdauskas E, Delgado V, Abbara S, Lansac E, Prakash SK, Bissell MM, Popescu BA, Hope MD, Sitges M, Thourani VH, Pibarot P, Chandrasekaran K, Lancellotti P, Borger MA, Forrest JK, Webb J, Milewicz DM, Makkar R, Leon MB, Sanders SP, Markl M, Ferrari VA, Roberts WC, Song JK, Blanke P, White CS, Siu S, Svensson LG, Braverman AC, Bavaria J, Sundt TM, El Khoury G, De Paulis R, Enriquez-Sarano M, Bax JJ, Otto CM, Schäfers HJ; Endorsed by the Heart Valve Society (HVS), European Association of Cardiovascular Imaging (EACVI), Society of Thoracic Surgeons (STS), American Association for Thoracic Surgery (AATS), Society for Cardiovascular Magnetic Resonance (SCMR), Society of Cardiovascular Computed Tomography (SCCT), North American Society for Cardiovascular Imaging (NASCI) and the International Bicuspid Aortic Valve Consortium (BAVCon)
Eur J Cardiothorac Surg 2021 Sep 11;60(3):448-476. doi: 10.1093/ejcts/ezab038. PMID: 34293102
Diagnosis of arrhythmogenic cardiomyopathy: The Padua criteria.
Corrado D, Perazzolo Marra M, Zorzi A, Beffagna G, Cipriani A, Lazzari M, Migliore F, Pilichou K, Rampazzo A, Rigato I, Rizzo S, Thiene G, Anastasakis A, Asimaki A, Bucciarelli-Ducci C, Haugaa KH, Marchlinski FE, Mazzanti A, McKenna WJ, Pantazis A, Pelliccia A, Schmied C, Sharma S, Wichter T, Bauce B, Basso C
Int J Cardiol 2020 Nov 15;319:106-114. Epub 2020 Jun 16 doi: 10.1016/j.ijcard.2020.06.005. PMID: 32561223

Recent clinical studies

Etiology

Fetal cardiac interventions: Where do we stand?
Friedman KG, Tworetzky W
Arch Cardiovasc Dis 2020 Feb;113(2):121-128. Epub 2020 Feb 26 doi: 10.1016/j.acvd.2019.06.007. PMID: 32113817
Assessment and management of heart failure in the systemic right ventricle.
Carazo M, Andrade L, Kim Y, Wilson W, Wu FM
Heart Fail Rev 2020 Jul;25(4):609-621. doi: 10.1007/s10741-020-09914-2. PMID: 31970551
The Forgotten Ventricle? The Left Ventricle in Right-Sided Congenital Heart Disease.
Tretter JT, Redington AN
Circ Cardiovasc Imaging 2018 Mar;11(3):e007410. doi: 10.1161/CIRCIMAGING.117.007410. PMID: 29855426
Origins and consequences of congenital heart defects affecting the right ventricle.
Woudstra OI, Ahuja S, Bokma JP, Bouma BJ, Mulder BJM, Christoffels VM
Cardiovasc Res 2017 Oct 1;113(12):1509-1520. doi: 10.1093/cvr/cvx155. PMID: 28957538
Patent foramen ovale.
Homma S, Messé SR, Rundek T, Sun YP, Franke J, Davidson K, Sievert H, Sacco RL, Di Tullio MR
Nat Rev Dis Primers 2016 Jan 21;2:15086. doi: 10.1038/nrdp.2015.86. PMID: 27188965

Diagnosis

Cardiac imaging in Ebstein anomaly.
Qureshi MY, O'Leary PW, Connolly HM
Trends Cardiovasc Med 2018 Aug;28(6):403-409. Epub 2018 Jan 12 doi: 10.1016/j.tcm.2018.01.002. PMID: 29409687
Congenital Absence of the Pericardium.
Lopez D, Asher CR
Prog Cardiovasc Dis 2017 Jan-Feb;59(4):398-406. Epub 2016 Dec 9 doi: 10.1016/j.pcad.2016.12.002. PMID: 27956198
Ivemark Syndrome.
Masiwal P, Chenthil KS, Priyadarsini B, Gnanaprakasam J, Srihari I
J Assoc Physicians India 2016 May;64(5):73-75. PMID: 27735157
Patent foramen ovale.
Homma S, Messé SR, Rundek T, Sun YP, Franke J, Davidson K, Sievert H, Sacco RL, Di Tullio MR
Nat Rev Dis Primers 2016 Jan 21;2:15086. doi: 10.1038/nrdp.2015.86. PMID: 27188965
Aorto-ventricular tunnel.
McKay R
Orphanet J Rare Dis 2007 Oct 8;2:41. doi: 10.1186/1750-1172-2-41. PMID: 17922908Free PMC Article

Therapy

The American Association for Thoracic Surgery (AATS) 2022 Expert Consensus Document: Management of infants and neonates with tetralogy of Fallot.
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
Fetal cardiac interventions: Where do we stand?
Friedman KG, Tworetzky W
Arch Cardiovasc Dis 2020 Feb;113(2):121-128. Epub 2020 Feb 26 doi: 10.1016/j.acvd.2019.06.007. PMID: 32113817
Ebstein's Anomaly.
Holst KA, Connolly HM, Dearani JA
Methodist Debakey Cardiovasc J 2019 Apr-Jun;15(2):138-144. doi: 10.14797/mdcj-15-2-138. PMID: 31384377Free PMC Article
Repairing the tricuspid valve in congenital heart diseases other than Ebstein's.
Dodge-Khatami A, Mavroudis CD, Frost J, Jacobs JP, Mavroudis C
Cardiol Young 2014 Dec;24(6):1077-87. doi: 10.1017/S104795111400198X. PMID: 25647382
Patent foramen ovale.
Dattilo PB, Kim MS, Carroll JD
Cardiol Clin 2013 Aug;31(3):401-15. doi: 10.1016/j.ccl.2013.05.002. PMID: 23931102

Prognosis

Ebstein Anomaly in the Adult Patient.
Fuchs MM, Connolly HM
Cardiol Clin 2020 Aug;38(3):353-363. Epub 2020 Jun 6 doi: 10.1016/j.ccl.2020.04.004. PMID: 32622490
Cardiac imaging in Ebstein anomaly.
Qureshi MY, O'Leary PW, Connolly HM
Trends Cardiovasc Med 2018 Aug;28(6):403-409. Epub 2018 Jan 12 doi: 10.1016/j.tcm.2018.01.002. PMID: 29409687
Cat eye syndrome.
Sharma D, Murki S, Pratap T, Vasikarla M
BMJ Case Rep 2014 May 19;2014 doi: 10.1136/bcr-2014-203923. PMID: 24842361Free PMC Article
Echocardiographic evaluation of the single right ventricle in congenital heart disease: results of new techniques.
Cua CL, Feltes TF
Circ J 2012;76(1):22-31. Epub 2011 Dec 3 doi: 10.1253/circj.cj-11-1267. PMID: 22139360
Uhl's anomaly.
Vecht RJ, Carmichael DJ, Gopal R, Philip G
Br Heart J 1979 Jun;41(6):676-82. doi: 10.1136/hrt.41.6.676. PMID: 465242Free PMC Article

Clinical prediction guides

International consensus statement on nomenclature and classification of the congenital bicuspid aortic valve and its aortopathy, for clinical, surgical, interventional and research purposes.
Michelena HI, Della Corte A, Evangelista A, Maleszewski JJ, Edwards WD, Roman MJ, Devereux RB, Fernández B, Asch FM, Barker AJ, Sierra-Galan LM, De Kerchove L, Fernandes SM, Fedak PWM, Girdauskas E, Delgado V, Abbara S, Lansac E, Prakash SK, Bissell MM, Popescu BA, Hope MD, Sitges M, Thourani VH, Pibarot P, Chandrasekaran K, Lancellotti P, Borger MA, Forrest JK, Webb J, Milewicz DM, Makkar R, Leon MB, Sanders SP, Markl M, Ferrari VA, Roberts WC, Song JK, Blanke P, White CS, Siu S, Svensson LG, Braverman AC, Bavaria J, Sundt TM, El Khoury G, De Paulis R, Enriquez-Sarano M, Bax JJ, Otto CM, Schäfers HJ
J Thorac Cardiovasc Surg 2021 Sep;162(3):e383-e414. Epub 2021 Jul 22 doi: 10.1016/j.jtcvs.2021.06.019. PMID: 34304896
Ebstein's Anomaly.
Holst KA, Connolly HM, Dearani JA
Methodist Debakey Cardiovasc J 2019 Apr-Jun;15(2):138-144. doi: 10.14797/mdcj-15-2-138. PMID: 31384377Free PMC Article
Congenital abnormalities of the aortic arch: revisiting the 1964 Stewart classification.
Li S, Wen H, Liang M, Luo D, Qin Y, Liao Y, Ouyang S, Bi J, Tian X, Norwitz ER, Luo G
Cardiovasc Pathol 2019 Mar-Apr;39:38-50. Epub 2018 Dec 6 doi: 10.1016/j.carpath.2018.11.004. PMID: 30623879
Cardiac imaging in Ebstein anomaly.
Qureshi MY, O'Leary PW, Connolly HM
Trends Cardiovasc Med 2018 Aug;28(6):403-409. Epub 2018 Jan 12 doi: 10.1016/j.tcm.2018.01.002. PMID: 29409687
Aorto-ventricular tunnel.
McKay R
Orphanet J Rare Dis 2007 Oct 8;2:41. doi: 10.1186/1750-1172-2-41. PMID: 17922908Free PMC Article

Recent systematic reviews

Pulmonary Valve Replacement in Tetralogy of Fallot: An Updated Meta-Analysis.
Van den Eynde J, Sá MPBO, Vervoort D, Roever L, Meyns B, Budts W, Gewillig M, Ruhparwar A, Zhigalov K, Weymann A
Ann Thorac Surg 2022 Mar;113(3):1036-1046. Epub 2020 Dec 27 doi: 10.1016/j.athoracsur.2020.11.040. PMID: 33378694
Double-chambered Right Ventricle in Children.
Yuan SM
J Coll Physicians Surg Pak 2019 Dec;29(12):1193-1198. doi: 10.29271/jcpsp.2019.12.1193. PMID: 31839094
Pulse oximetry screening for critical congenital heart defects.
Plana MN, Zamora J, Suresh G, Fernandez-Pineda L, Thangaratinam S, Ewer AK
Cochrane Database Syst Rev 2018 Mar 1;3(3):CD011912. doi: 10.1002/14651858.CD011912.pub2. PMID: 29494750Free PMC Article
First trimester ultrasound tests alone or in combination with first trimester serum tests for Down's syndrome screening.
Alldred SK, Takwoingi Y, Guo B, Pennant M, Deeks JJ, Neilson JP, Alfirevic Z
Cochrane Database Syst Rev 2017 Mar 15;3(3):CD012600. doi: 10.1002/14651858.CD012600. PMID: 28295158Free PMC Article
Congenital heart defects and maternal fever: systematic review and meta-analysis.
Shi QY, Zhang JB, Mi YQ, Song Y, Ma J, Zhang YL
J Perinatol 2014 Sep;34(9):677-82. Epub 2014 May 8 doi: 10.1038/jp.2014.76. PMID: 24811224

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