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Congenital malformation of the left heart

MedGen UID:
868006
•Concept ID:
C4022397
•
Congenital Abnormality
Synonym: Congenital left-sided heart lesions
 
HPO: HP:0045017
Monarch Initiative: MONDO:0005584

Definition

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

Term Hierarchy

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

Aortic Coarctation.
Kim YY, Andrade L, Cook SC
Cardiol Clin 2020 Aug;38(3):337-351. Epub 2020 May 31 doi: 10.1016/j.ccl.2020.04.003. PMID: 32622489
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
Diagnosis of fetal non-chromosomal abnormalities on routine ultrasound examination at 11-13 weeks' gestation.
Syngelaki A, Hammami A, Bower S, Zidere V, Akolekar R, Nicolaides KH
Ultrasound Obstet Gynecol 2019 Oct;54(4):468-476. doi: 10.1002/uog.20844. PMID: 31408229
The importance of the early diagnosis of aorta coarctation.
Cangussú LR, Lopes MR, Barbosa RHA
Rev Assoc Med Bras (1992) 2019 Feb;65(2):240-245. doi: 10.1590/1806-9282.65.2.240. PMID: 30892450
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

Outcomes in Hypoplastic Left Heart Syndrome.
Metcalf MK, Rychik J
Pediatr Clin North Am 2020 Oct;67(5):945-962. doi: 10.1016/j.pcl.2020.06.008. PMID: 32888691
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
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
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

Congenital heart defects caused by FOXJ1.
Padua MB, Helm BM, Wells JR, Smith AM, Bellchambers HM, Sridhar A, Ware SM
Hum Mol Genet 2023 Jul 4;32(14):2335-2346. doi: 10.1093/hmg/ddad065. PMID: 37158461Free PMC Article
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
Left-right patterning in congenital heart disease beyond heterotaxy.
Gabriel GC, Lo CW
Am J Med Genet C Semin Med Genet 2020 Mar;184(1):90-96. Epub 2020 Jan 30 doi: 10.1002/ajmg.c.31768. PMID: 31999049Free PMC Article
Cell Therapy Trials in Congenital Heart Disease.
Oh H
Circ Res 2017 Apr 14;120(8):1353-1366. doi: 10.1161/CIRCRESAHA.117.309697. PMID: 28408455
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

Diagnosis of major heart defects by routine first-trimester ultrasound examination: association with increased nuchal translucency, tricuspid regurgitation and abnormal flow in ductus venosus.
Minnella GP, Crupano FM, Syngelaki A, Zidere V, Akolekar R, Nicolaides KH
Ultrasound Obstet Gynecol 2020 May;55(5):637-644. doi: 10.1002/uog.21956. PMID: 31875326
STRUCTURAL HEART ANOMALIES (REVIEW).
Osovska N, Kuzminova N, Ovcharuk M, Serhiychuk O
Georgian Med News 2016 Jun;(255):66-77. PMID: 27441539
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
Congenitally corrected transposition.
Wallis GA, Debich-Spicer D, Anderson RH
Orphanet J Rare Dis 2011 May 14;6:22. doi: 10.1186/1750-1172-6-22. PMID: 21569592Free PMC Article
Complex atrioventricular canal.
Mitchell ME, Litwin SB, Tweddell JS
Semin Thorac Cardiovasc Surg Pediatr Card Surg Annu 2007:32-41. doi: 10.1053/j.pcsu.2007.01.002. PMID: 17433989

Clinical prediction guides

Excessive Trabeculation of the Left Ventricle: JACC: Cardiovascular Imaging Expert Panel Paper.
Petersen SE, Jensen B, Aung N, Friedrich MG, McMahon CJ, Mohiddin SA, Pignatelli RH, Ricci F, Anderson RH, Bluemke DA
JACC Cardiovasc Imaging 2023 Mar;16(3):408-425. Epub 2023 Feb 8 doi: 10.1016/j.jcmg.2022.12.026. PMID: 36764891Free PMC Article
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
Diagnosis of major heart defects by routine first-trimester ultrasound examination: association with increased nuchal translucency, tricuspid regurgitation and abnormal flow in ductus venosus.
Minnella GP, Crupano FM, Syngelaki A, Zidere V, Akolekar R, Nicolaides KH
Ultrasound Obstet Gynecol 2020 May;55(5):637-644. doi: 10.1002/uog.21956. PMID: 31875326
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
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
Mitral annular disjunction: A systematic review of the literature.
Bennett S, Thamman R, Griffiths T, Oxley C, Khan JN, Phan T, Patwala A, Heatlie G, Kwok CS
Echocardiography 2019 Aug;36(8):1549-1558. Epub 2019 Aug 5 doi: 10.1111/echo.14437. PMID: 31385360
Global birth prevalence of congenital heart defects 1970-2017: updated systematic review and meta-analysis of 260 studies.
Liu Y, Chen S, Zühlke L, Black GC, Choy MK, Li N, Keavney BD
Int J Epidemiol 2019 Apr 1;48(2):455-463. doi: 10.1093/ije/dyz009. PMID: 30783674Free PMC Article
Congenital Heart Defects and Measures of Prenatal Brain Growth: A Systematic Review.
Hansen T, Henriksen TB, Bach CC, Matthiesen NB
Pediatr Neurol 2017 Jul;72:7-18.e1. Epub 2017 Apr 1 doi: 10.1016/j.pediatrneurol.2017.03.014. PMID: 28549654
Birth prevalence of congenital heart disease worldwide: a systematic review and meta-analysis.
van der Linde D, Konings EE, Slager MA, Witsenburg M, Helbing WA, Takkenberg JJ, Roos-Hesselink JW
J Am Coll Cardiol 2011 Nov 15;58(21):2241-7. doi: 10.1016/j.jacc.2011.08.025. PMID: 22078432

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