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Congenital anomaly of cardiovascular system

MedGen UID:
777113
Concept ID:
C3665496
Congenital Abnormality
Synonyms: cardiovascular system development disease; congenital Abnormality of the circulatory system; congenital anomaly of cardiovascular system; Congenital Cardiovascular Abnormality; congenital cardiovascular Abnormality; Congenital Cardiovascular Anomaly; congenital cardiovascular anomaly; Congenital Cardiovascular Disorder; Congenital cardiovascular disorder; congenital cardiovascular disorder; disorder of cardiovascular system development
SNOMED CT: Congenital anomaly of cardiovascular system (9904008); Congenital cardiovascular disorder (762228008)
 
Monarch Initiative: MONDO:0024239

Definition

A heart or vascular abnormality which is inborn or present at birth. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCongenital anomaly of cardiovascular system

Professional guidelines

PubMed

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
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
Donofrio MT, Moon-Grady AJ, Hornberger LK, Copel JA, Sklansky MS, Abuhamad A, Cuneo BF, Huhta JC, Jonas RA, Krishnan A, Lacey S, Lee W, Michelfelder EC Sr, Rempel GR, Silverman NH, Spray TL, Strasburger JF, Tworetzky W, Rychik J; American Heart Association Adults With Congenital Heart Disease Joint Committee of the Council on Cardiovascular Disease in the Young and Council on Clinical Cardiology, Council on Cardiovascular Surgery and Anesthesia, and Council on Cardiovascular and Stroke Nursing
Circulation 2014 May 27;129(21):2183-242. Epub 2014 Apr 24 doi: 10.1161/01.cir.0000437597.44550.5d. PMID: 24763516

Recent clinical studies

Etiology

Hammill AM, Boscolo E
J Clin Invest 2024 Apr 15;134(8) doi: 10.1172/JCI172842. PMID: 38618955Free PMC Article
Ramcharan TKW, Goff DA, Greenleaf CE, Shebani SO, Salazar JD, Corno AF
Pediatr Cardiol 2022 Oct;43(7):1409-1428. Epub 2022 Apr 23 doi: 10.1007/s00246-022-02908-x. PMID: 35460366
Yoshimura N, Fukahara K, Yamashita A, Doi T, Yamashita S, Homma T, Yokoyama S, Aoki M, Higashida A, Shimada Y, Toritsuka D, Nagao K, Ikeno Y
Surg Today 2020 Oct;50(10):1151-1158. Epub 2019 Nov 1 doi: 10.1007/s00595-019-01907-5. PMID: 31676999
Mooney MA, Zabramski JM
Handb Clin Neurol 2017;143:279-282. doi: 10.1016/B978-0-444-63640-9.00026-6. PMID: 28552150
Kabbani M, Haider N, Abu-Sulaiman R
Cardiol Young 2004 Aug;14(4):447-9. doi: 10.1017/S1047951104004160. PMID: 15680054

Diagnosis

Yoshimura N, Fukahara K, Yamashita A, Doi T, Yamashita S, Homma T, Yokoyama S, Aoki M, Higashida A, Shimada Y, Toritsuka D, Nagao K, Ikeno Y
Surg Today 2020 Oct;50(10):1151-1158. Epub 2019 Nov 1 doi: 10.1007/s00595-019-01907-5. PMID: 31676999
Papamichail M, Pizanias M, Heaton N
Eur J Pediatr 2018 Mar;177(3):285-294. Epub 2017 Dec 14 doi: 10.1007/s00431-017-3058-x. PMID: 29243189Free PMC Article
Talwar S, Choudhary UK, Kothari SS, Airan B
Int J Cardiol 1999 Jul 31;70(2):201-5. doi: 10.1016/s0167-5273(99)00059-5. PMID: 10454311
Verel D, Pilcher J, Hynes DM
Br Heart J 1970 Sep;32(5):714-6. doi: 10.1136/hrt.32.5.714. PMID: 5470056Free PMC Article
BLOUNT SG Jr, GELB IJ, MCCORD MC
Circulation 1957 Feb;15(2):210-24. doi: 10.1161/01.cir.15.2.210. PMID: 13396943

Therapy

Karim JN, Bradburn E, Roberts N, Papageorghiou AT; ACCEPTS study
Ultrasound Obstet Gynecol 2022 Jan;59(1):11-25. doi: 10.1002/uog.23740. PMID: 34369613Free PMC Article
Markovic JN, Shortell CK
J Cardiovasc Surg (Torino) 2021 Oct;62(5):456-466. Epub 2021 Jun 9 doi: 10.23736/S0021-9509.21.11911-1. PMID: 34105926
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
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
Jones RT
Annu Rev Med 1983;34:247-58. doi: 10.1146/annurev.me.34.020183.001335. PMID: 6305257

Prognosis

Fatusin OO, Brenner JI, Ravekes WJ
Cardiol Young 2015 Dec;25(8):1536-9. doi: 10.1017/S1047951115002036. PMID: 26675601
Smith DE 3rd, Adams R, Argilla M, Phoon CK, Chun AJ, Bendel M, Mosca RS
J Card Surg 2013 May;28(3):306-8. Epub 2013 Mar 11 doi: 10.1111/jocs.12079. PMID: 23480565
Kabbani M, Haider N, Abu-Sulaiman R
Cardiol Young 2004 Aug;14(4):447-9. doi: 10.1017/S1047951104004160. PMID: 15680054
Talwar S, Choudhary UK, Kothari SS, Airan B
Int J Cardiol 1999 Jul 31;70(2):201-5. doi: 10.1016/s0167-5273(99)00059-5. PMID: 10454311
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

Karim JN, Bradburn E, Roberts N, Papageorghiou AT; ACCEPTS study
Ultrasound Obstet Gynecol 2022 Jan;59(1):11-25. doi: 10.1002/uog.23740. PMID: 34369613Free PMC Article
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
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
Cotier P, Bruneval P, Amemiya K
Cardiovasc Pathol 2019 Jan-Feb;38:39-41. Epub 2018 Oct 24 doi: 10.1016/j.carpath.2018.10.006. PMID: 30447516
Shah RG, Kirsch J
Int J Cardiovasc Imaging 2012 Aug;28(6):1279-80. Epub 2011 Jan 8 doi: 10.1007/s10554-010-9776-z. PMID: 21222038

Recent systematic reviews

Gaudino M, Di Franco A, Arbustini E, Bacha E, Bates ER, Cameron DE, Cao D, David TE, De Paulis R, El-Hamamsy I, Farooqi KM, Girardi LN, Gräni C, Kochav JD, Molossi S, Puskas JD, Rao SV, Sandner S, Tatoulis J, Truong QA, Weinsaft JW, Zimpfer D, Mery CM
J Am Coll Cardiol 2023 Nov 21;82(21):2034-2053. Epub 2023 Oct 16 doi: 10.1016/j.jacc.2023.08.012. PMID: 37855757
Gouda P, Kay R, Habib M, Aziz A, Aziza E, Welsh R
Int J Cardiol 2022 Sep 1;362:158-167. Epub 2022 Jun 1 doi: 10.1016/j.ijcard.2022.05.065. PMID: 35662564
Karim JN, Bradburn E, Roberts N, Papageorghiou AT; ACCEPTS study
Ultrasound Obstet Gynecol 2022 Jan;59(1):11-25. doi: 10.1002/uog.23740. PMID: 34369613Free PMC Article
Rosen A, Chan WV, Matelski J, Walsh C, Murji A
Fertil Steril 2021 Oct;116(4):1107-1116. Epub 2021 Jun 12 doi: 10.1016/j.fertnstert.2021.05.095. PMID: 34130801
Gravholt CH, Andersen NH, Conway GS, Dekkers OM, Geffner ME, Klein KO, Lin AE, Mauras N, Quigley CA, Rubin K, Sandberg DE, Sas TCJ, Silberbach M, Söderström-Anttila V, Stochholm K, van Alfen-van derVelden JA, Woelfle J, Backeljauw PF; International Turner Syndrome Consensus Group
Eur J Endocrinol 2017 Sep;177(3):G1-G70. doi: 10.1530/EJE-17-0430. PMID: 28705803

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