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]


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.


Life Threatening Causes

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

Common Causes

Causes by Organ System

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
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

Acyanotic and Septal Defects

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

Ventricular Septal Defect [3]

Patent Ductus Arteriosus [2][3]

Atrioventricular Septal Defect [5][3]

Obstruction Defects

Aortic valve stenosis

Coarctation of the Aorta

Pulmonic Valve Stenosis

Subaortic Stenosis

Cyanotic Defects

Persistent Truncus Arteriosus

Tetralogy of Fallot

Transposition of the great vessels

Combined Causes in Alphabetical Order


  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.
  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.
  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.
  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.
  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.
  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.
  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.
  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.
  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.
  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.
  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.
  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.
  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.
  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.
  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.
  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.
  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.
  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.

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