Congenital heart disease causes

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:  Priyamvada Singh, MBBS [2] Ogheneochuko Ajari, MB.BS, MS [3] Assistant Editor-In-Chief: Kristin Feeney, B.S. [4]

## Overview

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Current knowledge regarding the causes of congenital heart disease is limited. Most research has been based on small studies (<1,000 patients). As is common with many congenital related conditions, there are gaps in knowledge regarding the causation of congenital heart disease. Congenital heart disease is multi-factorial in origin, with genetics and environmental factors both playing a role.

## Causes

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### Life Threatening Causes

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Life-threatening causes include conditions which may result in death or permanent disability within 24 hours if left untreated.

### Common Causes

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* Down syndrome[1]
* Ebstein's anomaly
* Endocardial cushion defect
* Hypoplastic left heart syndrome
* Noonan syndrome[1]
* Pulmonary atresia
* Turner syndrome

### Causes by Organ System

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Cardiovascular | Acrocephalopolysyndactyly type III, Alagille syndrome, aortic stenosis, atrial septal defect, atrioventricular septal defect, Barrow-Fitzsimmons syndrome, Beuren-Williams syndrome, cardiocranial syndrome, cardiofaciocutaneous syndrome, CHARGE syndrome, coarctation of aorta, Down syndrome, Eisenmenger's syndrome, endocardial cushion defect, faciocardiomelic syndrome, Forney Robinson Pascoe syndrome, Gay-Feinmesser-Cohen syndrome, Goossens-Devriendt syndrome, Ho Kaufman Mcalister syndrome, humerospinal dysostosis, Hurst-Hallam-Hockey syndrome, hypoplastic left heart syndrome, Loeys-Dietz syndrome, Marfan syndrome, mitral stenosis, Moyamoya disease, neonatal lupus, Noonan syndrome, patent ductus arteriosus, pulmonary atresia, pulmonic stenosis, Sakati syndrome, systemic lupus erythematosus, TAR syndrome, tetralogy of Fallot, total anomalous pulmonary venous connection, transposition of the great vessels, tricuspid atresia, tricuspid stenosis, trisomy 13, trisomy 18, trisomy 21, truncus arteriosus, Turner syndrome, VACTERL association, ventricular septal defect, Yorifuji Okuno syndrome, Zunich neuroectodermal syndrome, Zunich-Kaye syndrome

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Chemical / poisoning | Organic solvents
Dermatologic | Cardiofaciocutaneous syndrome, Down syndrome, neonatal lupus, systemic lupus erythematosus, trisomy 21, Zunich neuroectodermal syndrome, Zunich-Kaye syndrome
Drug Side Effect | Amphetamine, benzodiazepines, hydantoin, ibuprofen, isotretinoin, lithium, phenytoin, retinoic acid, thalidomide
Ear Nose Throat | CHARGE syndrome, Down syndrome, Forney Robinson Pascoe syndrome, Ho Kaufman Mcalister syndrome, Hurst-Hallam-Hockey syndrome, lymphedema-distichiasis syndrome, Zunich neuroectodermal syndrome, Zunich-Kaye syndrome
Endocrine | Down syndrome, gestational diabetes, maternal diabetes mellitus, Turner syndrome, Yorifuji Okuno syndrome
Environmental | No underlying causes
Gastroenterologic | Alagille syndrome, Down syndrome, systemic lupus erythematosus, VACTERL association, Yorifuji Okuno syndrome
Genetic | Acrocephalopolysyndactyly type III, Alagille syndrome, Beuren-Williams syndrome, CADASIL, cardiocranial syndrome, cardiofaciocutaneous syndrome, CATCH 22 syndrome, chromosome 8 recombinant syndrome, Costello syndrome, DiGeorge's syndrome, Down syndrome, Ebstein's anomaly, Edwards syndrome, Leopard syndrome, lissencephaly syndrome type 1, Loeys-Dietz syndrome, Marfan syndrome, Noonan syndrome, Pfeiffer syndrome type III, Sakati syndrome, TAR syndrome, trisomy 13, trisomy 18, trisomy 21, Turner syndrome, Williams syndrome
Hematologic | Systemic lupus erythematosus, TAR syndrome
Iatrogenic | No underlying causes
Infectious Disease | Congenital rubella syndrome, coxsackie virus, cytomegalovirus, herpes virus
Musculoskeletal / Ortho | Barrow-Fitzsimmons syndrome, Down syndrome, faciocardiomelic syndrome, Forney Robinson Pascoe syndrome, Gay-Feinmesser-Cohen syndrome, Goossens-Devriendt syndrome, Ho Kaufman Mcalister syndrome, humerospinal dysostosis, lymphedema-distichiasis syndrome, Marfan syndrome, systemic lupus erythematosus, TAR syndrome, Turner syndrome, VACTERL association
Neurologic | CADASIL, cardiocranial syndrome, CHARGE syndrome, Down syndrome, Goossens-Devriendt syndrome, Hurst-Hallam-Hockey syndrome, lissencephaly syndrome type 1, Marfan syndrome, Moyamoya disease, systemic lupus erythematosus, Williams syndrome, Zunich neuroectodermal syndrome, Zunich-Kaye syndrome
Nutritional / Metabolic | Phenylketonuria
Obstetric/Gynecologic | Turner syndrome
Oncologic | No underlying causes
Opthalmologic | Barrow-Fitzsimmons syndrome, Down syndrome, lymphedema-distichiasis syndrome, Marfan syndrome, Moyamoya disease, Zunich neuroectodermal syndrome, Zunich-Kaye syndrome
Overdose / Toxicity | Drug abuse, fetal alcohol syndrome
Psychiatric | Costello syndrome, Down syndrome, Zunich neuroectodermal syndrome, Zunich-Kaye syndrome
Pulmonary | Acrocephalopolysyndactyly type III, systemic lupus erythematosus, Marfan syndrome
Renal / Electrolyte | Systemic lupus erythematosus, Turner syndrome, VACTERL association
Rheum / Immune / Allergy | CATCH 22 syndrome, DiGeorge's syndrome, neonatal lupus, systemic lupus erythematosus
Sexual | Barrow-Fitzsimmons syndrome, Turner syndrome
Trauma | No underlying causes
Urologic | VACTERL association
Dental | No underlying causes
Miscellaneous | Assisted reproductive technology

## Causes Based on Classification of Congenital heart diseases

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### Acyanotic and Septal Defects

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#### Atrial Septal Defect [2][3][4]

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* CADASIL
* Down syndrome
* Eisenmenger's syndrome
* Ellis-van Creveld syndrome
* Endocardial cushion defect
* Holt-Oram syndrome
* TAR syndrome
* Trisomy 21

#### Ventricular Septal Defect [3]

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* CATCH 22 syndrome
* DiGeorge's syndrome
* Down syndrome
* Eisenmenger's syndrome
* Holt-Oram syndrome
* Patau syndrome
* Trisomy 21
* Trisomy 13

#### Patent Ductus Arteriosus [2][3]

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* Amphetamine
* Congenital rubella syndrome
* Eisenmenger's syndrome
* Fetal alcohol syndrome
* Phenytoin

#### Atrioventricular Septal Defect [5][3]

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* Down syndrome
* Endocardial cushion defect
* Trisomy 21

### Obstruction Defects

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#### Aortic valve stenosis

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* Beuren-Williams syndrome
* Turner syndrome
* Williams syndrome

#### Coarctation of the Aorta

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* Turner syndrome

#### Pulmonic Valve Stenosis

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* Noonan syndrome

#### Subaortic Stenosis

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* Hypertrophic cardiomyopathy
* Hypertrophic obstructive cardiomyopathy

### Cyanotic Defects

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#### Persistent Truncus Arteriosus

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* CATCH 22 syndrome
* Congenital rubella syndrome
* Cytomegalovirus
* DiGeorge's syndrome
* Ebstein's anomaly
* Fetal alcohol syndrome
* Herpes virus
* Isotretinoin
* Lithium
* Maternal diabetes
* Organic solvents
* Phenylketonuria
* Retinoic acid
* Thalidomide

#### Tetralogy of Fallot

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* Alagille syndrome
* Congenital rubella syndrome
* DiGeorge's syndrome
* Fetal alcohol syndrome
* Hydantoin
* Maternal diabetes
* Phenylketonuria

#### Transposition of the great vessels

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* CATCH 22 syndrome
* DiGeorge's syndrome

## Combined Causes in Alphabetical Order

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* Acrocephalopolysyndactyly type III
* Alagille syndrome
* Amphetamine
* Assisted reproductive technology
* Barrow-Fitzsimmons syndrome
* Benzodiazepines
* Beuren-Williams syndrome
* CADASIL
* Cardiocranial syndrome[6]
* Cardiofaciocutaneous syndrome
* CATCH 22 syndrome
* CHARGE syndrome
* Chromosome 8 recombinant syndrome
* Congenital rubella syndrome
* Costello syndrome
* Coxsackie virus
* Cytomegalovirus
* DiGeorge's syndrome
* Down syndrome [7]
* Drug abuse
* Ebstein's anomaly
* Edwards syndrome
* Eisenmenger's syndrome[8]
* Ellis-van Creveld syndrome
* Endocardial cushion defect

* Fetal alcohol syndrome
* Faciocardiomelic syndrome
* Forney Robinson Pascoe syndrome [9]
* Gay-Feinmesser-Cohen syndrome
* Gestational diabetes
* Goossens-Devriendt syndrome
* Herpes virus
* Ho Kaufman Mcalister syndrome
* Holt-Oram syndrome
* Humerospinal dysostosis [10]
* Hurst-Hallam-Hockey syndrome
* Hydantoin
* Hypoplastic left heart syndrome [11]
* Ibuprofen
* Isotretinoin
* Leopard syndrome
* Lissencephaly syndrome type 1
* Lithium
* Loeys-Dietz syndrome
* Lymphedema-distichiasis syndrome [12][13][14]
* Marfan syndrome
* Maternal diabetes mellitus
* Mitral stenosis
* Moyamoya disease
* Neonatal lupus [15]

* Noonan syndrome
* Organic solvents e.g dyes, paints, nail polish
* Patau syndrome
* Pfeiffer syndrome type III
* Phenylketonuria
* Phenytoin
* Pulmonary atresia
* Retinoic acid
* Sakati syndrome
* Systemic lupus erythematosus [16]
* TAR syndrome
* Tetralogy of Fallot [17][3] [18]
* Thalidomide
* Tricuspid atresia
* Tricuspid stenosis
* Trisomy 13
* Trisomy 18
* Trisomy 21
* Turner syndrome
* VACTERL association [19][20]
* Williams syndrome
* Yorifuji Okuno syndrome
* Zunich neuroectodermal syndrome
* Zunich-Kaye syndrome

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## References

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1. ↑ 1.0 1.1 Prendiville TW, Gauvreau K, Tworog-Dube E, Patkin L, Kucherlapati RS, Roberts AE; et al. (2014). "Cardiovascular disease in Noonan syndrome". Arch Dis Child. 99 (7): 629–34. doi:10.1136/archdischild-2013-305047. PMID 24534818.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
2. ↑ 2.0 2.1 Zheng JY, Tian HT, Zhu ZM, Li B, Han L, Jiang SL; et al. (2013). "Prevalence of symptomatic congenital heart disease in Tibetan school children". Am J Cardiol. 112 (9): 1468–70. doi:10.1016/j.amjcard.2013.07.028. PMID 24012023.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
3. ↑ 3.0 3.1 3.2 3.3 3.4 Sadoh WE, Uzodimma CC, Daniels Q (2013). "Congenital heart disease in Nigerian children: a multicenter echocardiographic study". World J Pediatr Congenit Heart Surg. 4 (2): 172–6. doi:10.1177/2150135112474026. PMID 23799730.CS1 maint: Multiple names: authors list (link)
4. ↑ Liu JJ, Fan LL, Chen JL, Tan ZP, Yang YF (2014). "A novel variant in TBX20 (p.D176N) identified by whole-exome sequencing in combination with a congenital heart disease related gene filter is associated with familial atrial septal defect". J Zhejiang Univ Sci B. 15 (9): 830–7. doi:10.1631/jzus.B1400062. PMC 4162884. PMID 25183037.CS1 maint: Multiple names: authors list (link) CS1 maint: PMC format (link)
5. ↑ Al Turki S, Manickaraj AK, Mercer CL, Gerety SS, Hitz MP, Lindsay S; et al. (2014). "Rare variants in NR2F2 cause congenital heart defects in humans". Am J Hum Genet. 94 (4): 574–85. doi:10.1016/j.ajhg.2014.03.007. PMC 3980509. PMID 24702954.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link) CS1 maint: PMC format (link)
6. ↑ Stratton RF, Parsons DS (1989). "Third case of Pfeiffer-type cardiocranial syndrome". Am J Med Genet. 34 (4): 587–8. doi:10.1002/ajmg.1320340427. PMID 2624274.
7. ↑ Baraona F, Gurvitz M, Landzberg MJ, Opotowsky AR (2013). "Hospitalizations and mortality in the United States for adults with Down syndrome and congenital heart disease". Am J Cardiol. 111 (7): 1046–51. doi:10.1016/j.amjcard.2012.12.025. PMID 23332593.CS1 maint: Multiple names: authors list (link)
8. ↑ Opotowsky AR, Landzberg MJ, Beghetti M (2014). "The exceptional and far-flung manifestations of heart failure in Eisenmenger syndrome". Heart Fail Clin. 10 (1): 91–104. doi:10.1016/j.hfc.2013.09.005. PMID 24275297.CS1 maint: Multiple names: authors list (link)
9. ↑ Forney WR, Robinson SJ, Pascoe DJ (1966). "Congenital heart disease, deafness, and skeletal malformations: a new syndrome?". J Pediatr. 68 (1): 14–26. PMID 5901343.CS1 maint: Multiple names: authors list (link)
10. ↑ Cortina H, Vidal J, Vallcanera A, Alberto C, Muro D, Dominguez F (1979). "Humero-spinal dysostosis". Pediatr Radiol. 8 (3): 188–90. PMID 112567.CS1 maint: Multiple names: authors list (link)
11. ↑ Warburton D, Ronemus M, Kline J, Jobanputra V, Williams I, Anyane-Yeboa K; et al. (2014). "The contribution of de novo and rare inherited copy number changes to congenital heart disease in an unselected sample of children with conotruncal defects or hypoplastic left heart disease". Hum Genet. 133 (1): 11–27. doi:10.1007/s00439-013-1353-9. PMC 3880624. PMID 23979609.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link) CS1 maint: PMC format (link)
12. ↑ Fabretto A, Shardlow A, Faletra F, Lepore L, Hladnik U, Gasparini P (2010). "A case of lymphedema-distichiasis syndrome carrying a new de novo frameshift FOXC2 mutation". Ophthalmic Genet. 31 (2): 98–100. doi:10.3109/13816811003620517. PMID 20450314.CS1 maint: Multiple names: authors list (link)
13. ↑ Brice G, Mansour S, Bell R, Collin JR, Child AH, Brady AF; et al. (2002). "Analysis of the phenotypic abnormalities in lymphoedema-distichiasis syndrome in 74 patients with FOXC2 mutations or linkage to 16q24". J Med Genet. 39 (7): 478–83. PMC 1735188. PMID 12114478.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link) CS1 maint: PMC format (link)
14. ↑ Tanpaiboon P, Kantaputra P, Wejathikul K, Piyamongkol W (2010). "c. 595-596 insC of FOXC2 underlies lymphedema, distichiasis, ptosis, ankyloglossia, and Robin sequence in a Thai patient". Am J Med Genet A. 152A (3): 737–40. doi:10.1002/ajmg.a.33273. PMID 20186799.CS1 maint: Multiple names: authors list (link)
15. ↑ Morais S, Santos IC, Pereira DF, Mimoso G (2013). "Neonatal lupus with atypical cardiac and cutaneous manifestation". BMJ Case Rep. 2013. doi:10.1136/bcr-2013-009249. PMID 23839605.CS1 maint: Multiple names: authors list (link)
16. ↑ Quan MY, Wang DH (2013). "[Clinical features of preterm infants born to mothers with systemic lupus erythematosus: a retrospective analysis]". Zhongguo Dang Dai Er Ke Za Zhi. 15 (12): 1045–9. PMID 24342193.
17. ↑ Yang YQ, Gharibeh L, Li RG, Xin YF, Wang J, Liu ZM; et al. (2013). "GATA4 loss-of-function mutations underlie familial tetralogy of fallot". Hum Mutat. 34 (12): 1662–71. doi:10.1002/humu.22434. PMID 24000169.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
18. ↑ Kohi MP, Ordovas KG, Naeger DM, Meadows AK, Foster E, Higgins CB (2013). "CMR assessment of right ventricular function in patients with combined pulmonary stenosis and insufficiency after correction of tetralogy of Fallot". Acta Radiol. 54 (10): 1132–7. doi:10.1177/0284185113491565. PMID 23864059.CS1 maint: Multiple names: authors list (link)
19. ↑ Cunningham BK, Hadley DW, Hannoush H, Meltzer AC, Niforatos N, Pineda-Alvarez D; et al. (2013). "Analysis of cardiac anomalies in VACTERL association". Birth Defects Res A Clin Mol Teratol. 97 (12): 792–7. doi:10.1002/bdra.23211. PMID 24343877.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
20. ↑ Al-Farqani A, Panduranga P, Al-Maskari S, Thomas E (2013). "VACTERL association with double-chambered left ventricle: A rare occurrence". Ann Pediatr Cardiol. 6 (2): 200–1. doi:10.4103/0974-2069.115283. PMC 3957460. PMID 24688248.CS1 maint: Multiple names: authors list (link) CS1 maint: PMC format (link)

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