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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

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVCongenital anomaly of cardiovascular system

Phenotypic abnormality
- Abnormality of prenatal development or birth
  - Fetal anomaly
    - Congenital Systemic Disorder
      - Congenital anomaly of cardiovascular system
        Congenital arteriovenous fistula
        Congenital systemic arteriovenous fistula
        Congenital Coronary Artery Abnormality
        Congenital heart disease
        Abnormal cardiac septum morphology
        Abnormal atrial septum morphology
        Aorticopulmonary Septal Defect
        Aortopulmonary window
        Atrial septal defect
        Atrioventricular canal defect
        Atrioventricular septal defect
        Endocardial cushion defect
        Ventricular septal defect
        Abnormal heart morphology
        22q11 Deletion Syndrome
        3-Methylglutaconic aciduria type 2
        Abnormal anatomic location of the heart
        Abnormal bulbus cordis morphology
        Abnormal cardiac atrium morphology
        Abnormal cardiac magnetic resonance imaging finding
        Abnormal cardiac ventricle morphology
        Abnormal connection of the cardiac segments
        Abnormal endocardium morphology
        Abnormal heart valve morphology
        Abnormal myocardium morphology
        Abnormal pericardium morphology
        Abnormal spatial orientation of the cardiac segments
        Aorto-ventricular tunnel
        Arrhythmogenic right ventricular cardiomyopathy
        Arteriohepatic dysplasia
        Bicuspid aortic valve
        Boot-shaped cardiac silhouette
        Cardiac mass
        Cardiomegaly
        Coarctation of aorta
        Congenital malformation of the left heart
        Congenital malformation of the right heart
        Coronary Vessel Anomalies
        Criss-cross heart
        Dextrocardia
        Ebstein anomaly
        Ectopia cordis
        Eisenmenger syndrome
        Fallot trilogy
        Hypoplastic heart
        Hypoplastic left heart syndrome
        Isolated Noncompaction of the Ventricular Myocardium
        Long QT syndrome
        Marfan syndrome
        Noonan syndrome
        Noonan syndrome with multiple lentigines
        Patent ductus arteriosus
        Quadricuspid aortic valve
        Single ventricle
        Situs inversus with levocardia
        Tetralogy of Fallot
        Transposition of the great arteries
        Triatrial heart
        Tricuspid atresia
        Trisomy 13 Syndromes
        Trisomy 18
        Turner syndrome
        Visceral heterotaxy
        Wolff-Parkinson-White pattern
        Abnormality of the pulmonary veins
        Abnormal pulmonary vein physiology
        Congenital total pulmonary venous return anomaly
        Aortic valve atresia
        Congenital complete atrioventricular heart block
        Left ventricular noncompaction cardiomyopathy
        Left ventricular noncompaction 7
        Malposition of Heart and Cardiac Apex
        Mitral atresia disorder
        Ostium primum defect
        Overriding aorta
        Partial anomalous pulmonary venous return
        Scimitar syndrome
        Patent foramen ovale
        Persistent truncus arteriosus
        Pulmonary valve atresia
        Pulmonary atresia with intact ventricular septum
        Pulmonary atresia with ventricular septal defect
        Congenital vascular malformation
        Arteriovenous hemangioma/malformation
        Cerebral arteriovenous malformation
        Congenital arteriovenous malformation of gastrointestinal tract
        Congenital retinal arteriovenous communication
        Cutaneous Arteriovenous Malformation/Hemangioma
        Hepatic arteriovenous malformation
        Renal Arteriovenous Malformation/Hemangioma
        Vascular ectasia
        Angiokeratoma
        Coronary Artery Ectasia
        Lymphangiectasis
        Nevus anemicus
        Nevus flammeus
        Spider telangiectasis of skin
        Telangiectasia
        Vascular ectasia of gastric antrum
        Venous lake
        Vascular malformation of the nervous system
        Arteriovenous Malformation, Intracranial
        Central Nervous System Cavernous Hemangioma
        Central Nervous System Venous Angioma
        Cerebral cavernous malformation
        Meningioangiomatosis
        Sinus pericranii
        Vein of Galen malformation
        Congenital Vena Cava Abnormality
        Discordant ventriculoarterial connection
        Double outlet right ventricle
        Double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy
        Double outlet right ventricle with doubly committed ventricular septal defect and pulmonary stenosis
        Double outlet right ventricle with doubly committed ventricular septal defect without pulmonary stenosis
        Double outlet right ventricle with non-committed subpulmonary ventricular septal defect
        Double outlet right ventricle with non-committed ventricular septal defect and pulmonary stenosis
        Double outlet right ventricle with non-committed ventricular septal defect without pulmonary stenosis
        Double outlet right ventricle with subaortic or doubly committed ventricular septal defect
        Double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis
        Double outlet right ventricle with subaortic ventricular septal defect and pulmonary stenosis
        Double outlet right ventricle with subaortic ventricular septal defect without pulmonary stenosis
        Double outlet right ventricle with subpulmonary ventricular septal defect
        Double outlet right ventricle with subpulmonary ventricular septal defect and pulmonary stenosis
        Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis
        Great Vessels Abnormality
        Aortic arch interruption
        Interrupted aortic arch type A
        Interrupted aortic arch type B
        Interrupted aortic arch type C
        Right aortic arch
        Right aortic arch with left descending aorta and left ductus arteriosus
        Right aortic arch with mirror image branching
        Right aortic arch with retroesophageal diverticulum of Kommerell
        Right aortic arch with retroesophageal left subclavian artery
        Vascular ring
        Premature closure of the ductus arteriosus
        Shone complex
        Single Ventricle Defect

Professional guidelines

PubMed

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

Congenital portosystemic shunts: diagnosis and treatment.

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

See all (1989)

Recent clinical studies

Etiology

Capillary malformations.

Hammill AM, Boscolo E
J Clin Invest 2024 Apr 15;134(8) doi: 10.1172/JCI172842. PMID: 38618955 Free PMC Article

Ebstein's Anomaly: From Fetus to Adult-Literature Review and Pathway for Patient Care.

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

Pediatric Congenital Cerebrovascular Anomalies.

Goyal P, Mangla R, Gupta S, Malhotra A, Almast J, Sapire J, Kolar B
J Neuroimaging 2019 Mar;29(2):165-181. Epub 2018 Oct 31 doi: 10.1111/jon.12575. PMID: 30378722

Congenital portosystemic venous shunt.

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: 29243189 Free PMC Article

Developmental venous anomalies.

Mooney MA, Zabramski JM
Handb Clin Neurol 2017;143:279-282. doi: 10.1016/B978-0-444-63640-9.00026-6. PMID: 28552150

See all (22775)

Diagnosis

Arteria Lusoria as a Cause of Dysphagia in an Infant.

Schweighofer N, Dolinšek J, Rupreht M
J Pediatr Health Care 2023 Nov-Dec;37(6):702-705. Epub 2023 Jul 28 doi: 10.1016/j.pedhc.2023.07.001. PMID: 37516943

Surgical treatment of tricuspid valve dysplasia in children.

Cleuziou J, Pringsheim M, Stroh A, Burri M, Lange R, Hörer J
Eur J Cardiothorac Surg 2022 Aug 3;62(3) doi: 10.1093/ejcts/ezac212. PMID: 35362523

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

Congenital vascular ring.

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

Quadricuspid Aortic Valve: A Comprehensive Review.

Yuan SM
Braz J Cardiovasc Surg 2016 Nov-Dec;31(6):454-460. doi: 10.5935/1678-9741.20160090. PMID: 28076624 Free PMC Article

See all (29711)

Therapy

Venous malformations.

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

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: 31384377 Free 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

Cor triatriatum sinister.

Kadner A, Meszaros K, Mueller C, Schoenhoff F, Hutter D, Carrel T
Multimed Man Cardiothorac Surg 2014;2014 Epub 2014 May 30 doi: 10.1093/mmcts/mmu005. PMID: 24878580

Contemporary management of vascular malformations.

Colletti G, Valassina D, Bertossi D, Melchiorre F, Vercellio G, Brusati R
J Oral Maxillofac Surg 2014 Mar;72(3):510-28. Epub 2013 Oct 16 doi: 10.1016/j.joms.2013.08.008. PMID: 24139296

See all (11265)

Prognosis

A rare congenital anomaly: Anomalous fibromuscular cord of the left atrium.

Ku L, Lv H, Ma X
J Card Surg 2022 Jul;37(7):2107-2109. Epub 2022 Apr 26 doi: 10.1111/jocs.16551. PMID: 35470914

Prenatal diagnosis of the persistent right umbilical vein, incidence and clinical significance.

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

Introduction to anomalous aortic origin of a coronary artery.

Brothers JA
Congenit Heart Dis 2017 Sep;12(5):600-602. Epub 2017 Jun 27 doi: 10.1111/chd.12497. PMID: 28653465

Ventricular pacing in single ventricles-A bad combination.

Bulic A, Zimmerman FJ, Ceresnak SR, Shetty I, Motonaga KS, Freter A, Trela AV, Hanisch D, Russo L, Avasarala K, Dubin AM
Heart Rhythm 2017 Jun;14(6):853-857. doi: 10.1016/j.hrthm.2017.03.035. PMID: 28528723

The aberrant right subclavian artery: cadaveric study and literature review.

Natsis K, Didagelos M, Gkiouliava A, Lazaridis N, Vyzas V, Piagkou M
Surg Radiol Anat 2017 May;39(5):559-565. Epub 2016 Dec 20 doi: 10.1007/s00276-016-1796-5. PMID: 27999944

See all (16293)

Clinical prediction guides

First-trimester ultrasound detection of fetal heart anomalies: systematic review and meta-analysis.

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: 34369613 Free 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.

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: 31384377 Free PMC Article

State-of-the-art pulmonary arterial imaging - Part 2.

Goerne H, Chaturvedi A, Partovi S, Rajiah P
Vasa 2018 Aug;47(5):361-375. Epub 2018 May 28 doi: 10.1024/0301-1526/a000709. PMID: 29806799

Cardiovascular magnetic resonance in pericardial diseases.

Bogaert J, Francone M
J Cardiovasc Magn Reson 2009 May 4;11(1):14. doi: 10.1186/1532-429X-11-14. PMID: 19413898 Free PMC Article

See all (11309)

Recent systematic reviews

Clinical features and complications of Loeys-Dietz syndrome: A systematic review.

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

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

Medical treatment of uterine arteriovenous malformation: a systematic review and meta-analysis.

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

Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the 2016 Cincinnati International Turner Syndrome Meeting.

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

Synopsis of Guidelines for the Clinical Management of Cerebral Cavernous Malformations: Consensus Recommendations Based on Systematic Literature Review by the Angioma Alliance Scientific Advisory Board Clinical Experts Panel.

Akers A, Al-Shahi Salman R, A Awad I, Dahlem K, Flemming K, Hart B, Kim H, Jusue-Torres I, Kondziolka D, Lee C, Morrison L, Rigamonti D, Rebeiz T, Tournier-Lasserve E, Waggoner D, Whitehead K
Neurosurgery 2017 May 1;80(5):665-680. doi: 10.1093/neuros/nyx091. PMID: 28387823 Free PMC Article

See all (323)

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Congenital anomaly of cardiovascular system

Definition

Term Hierarchy

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

Recent systematic reviews

Supplemental Content

Table of contents

Clinical resources

Practice guidelines

Consumer resources

Reviews

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