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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

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
Morris CA, Braddock SR; COUNCIL ON GENETICS
Pediatrics 2020 Feb;145(2) Epub 2020 Jan 21 doi: 10.1542/peds.2019-3761. PMID: 31964759
Franchi-Abella S, Gonzales E, Ackermann O, Branchereau S, Pariente D, Guérin F; International Registry of Congenital Portosystemic Shunt members
Abdom Radiol (NY) 2018 Aug;43(8):2023-2036. doi: 10.1007/s00261-018-1619-8. PMID: 29730740

Recent clinical studies

Etiology

Hammill AM, Boscolo E
J Clin Invest 2024 Apr 15;134(8) doi: 10.1172/JCI172842. PMID: 38618955Free PMC Article
Giuliani L, Di Toro A, Urtis M, Narula N, Grasso M, Pelenghi S, Belliato M, Bozzani A, Arici V, Pellegrini C, Serio A, Pilotto A, Fergnani V, Antoniazzi E, Magrassi L, Dore R, Valentini A, Preda L, Calliada F, Quaretti P, Pirrelli S, Kodama T, Vricella L, Cameron D, Arbustini E
J Am Coll Cardiol 2023 Mar 14;81(10):979-991. doi: 10.1016/j.jacc.2023.01.005. PMID: 36889877
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
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

Diagnosis

Zhao Y, Deng W, Wang Z, Wang Y, Zheng H, Zhou K, Xu Q, Bai L, Liu H, Ren Z, Jiang Z
Clin Chim Acta 2024 Jan 1;552:117683. Epub 2023 Nov 28 doi: 10.1016/j.cca.2023.117683. PMID: 38030030
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
Pérez-Riera AR, Barbosa-Barros R, Daminello-Raimundo R, de Abreu LC, Nikus K
Ann Noninvasive Electrocardiol 2019 May;24(3):e12590. Epub 2018 Aug 14 doi: 10.1111/anec.12590. PMID: 30106198Free PMC Article
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
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

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
Dyrka K, Rozkiewicz N, Obara-Moszynska M, Niedziela M
J Pediatr Endocrinol Metab 2020 Nov 26;33(11):1363-1372. doi: 10.1515/jpem-2020-0266. PMID: 33151179
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
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

Dagdeviren G, Keles A, Yücel Celik O, Yucel A, Sahin D
J Obstet Gynaecol 2022 Apr;42(3):443-446. Epub 2021 Jun 24 doi: 10.1080/01443615.2021.1916811. PMID: 34165009
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
Mous DS, Kool HM, Wijnen R, Tibboel D, Rottier RJ
Eur Respir Rev 2018 Mar 31;27(147) Epub 2018 Jan 24 doi: 10.1183/16000617.0104-2017. PMID: 29367409Free PMC Article
Claessens NHP, Kelly CJ, Counsell SJ, Benders MJNL
Dev Med Child Neurol 2017 Sep;59(9):894-902. Epub 2017 May 19 doi: 10.1111/dmcn.13461. PMID: 28542743
Osovska N, Kuzminova N, Ovcharuk M, Serhiychuk O
Georgian Med News 2016 Jun;(255):66-77. PMID: 27441539

Clinical prediction guides

Giuliani L, Di Toro A, Urtis M, Narula N, Grasso M, Pelenghi S, Belliato M, Bozzani A, Arici V, Pellegrini C, Serio A, Pilotto A, Fergnani V, Antoniazzi E, Magrassi L, Dore R, Valentini A, Preda L, Calliada F, Quaretti P, Pirrelli S, Kodama T, Vricella L, Cameron D, Arbustini E
J Am Coll Cardiol 2023 Mar 14;81(10):979-991. doi: 10.1016/j.jacc.2023.01.005. PMID: 36889877
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
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

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
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
Vandael E, Vandenberk B, Vandenberghe J, Willems R, Foulon V
Int J Clin Pharm 2017 Feb;39(1):16-25. Epub 2016 Dec 23 doi: 10.1007/s11096-016-0414-2. PMID: 28012118

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