Congenital heart disease causes: Difference between revisions
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*[[Lithium]] | *[[Lithium]] | ||
*[[Loeys-Dietz syndrome]] | *[[Loeys-Dietz syndrome]] | ||
*Lymphedema-distichiasis syndrome <ref name="pmid12114478">{{cite journal| author=Brice G, Mansour S, Bell R, Collin JR, Child AH, Brady AF et al.| title=Analysis of the phenotypic abnormalities in lymphoedema-distichiasis syndrome in 74 patients with FOXC2 mutations or linkage to 16q24. | journal=J Med Genet | year= 2002 | volume= 39 | issue= 7 | pages= 478-83 | pmid=12114478 | doi= | pmc=PMC1735188 | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=12114478 }} </ref> | *Lymphedema-distichiasis syndrome <ref name="pmid20450314">{{cite journal| author=Fabretto A, Shardlow A, Faletra F, Lepore L, Hladnik U, Gasparini P| title=A case of lymphedema-distichiasis syndrome carrying a new de novo frameshift FOXC2 mutation. | journal=Ophthalmic Genet | year= 2010 | volume= 31 | issue= 2 | pages= 98-100 | pmid=20450314 | doi=10.3109/13816811003620517 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=20450314 }} </ref><ref name="pmid12114478">{{cite journal| author=Brice G, Mansour S, Bell R, Collin JR, Child AH, Brady AF et al.| title=Analysis of the phenotypic abnormalities in lymphoedema-distichiasis syndrome in 74 patients with FOXC2 mutations or linkage to 16q24. | journal=J Med Genet | year= 2002 | volume= 39 | issue= 7 | pages= 478-83 | pmid=12114478 | doi= | pmc=PMC1735188 | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=12114478 }} </ref><ref name="pmid20186799">{{cite journal| author=Tanpaiboon P, Kantaputra P, Wejathikul K, Piyamongkol W| title=c. 595-596 insC of FOXC2 underlies lymphedema, distichiasis, ptosis, ankyloglossia, and Robin sequence in a Thai patient. | journal=Am J Med Genet A | year= 2010 | volume= 152A | issue= 3 | pages= 737-40 | pmid=20186799 | doi=10.1002/ajmg.a.33273 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=20186799 }} </ref> | ||
*[[Marfan syndrome]] | *[[Marfan syndrome]] | ||
*[[diabetes mellitus|Maternal diabetes mellitus]] | *[[diabetes mellitus|Maternal diabetes mellitus]] | ||
Revision as of 15:54, 10 November 2014
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Congenital heart disease Microchapters |
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Differentiating Congenital heart disease from other Disorders |
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Congenital heart disease causes On the Web |
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American Roentgen Ray Society Images of Congenital heart disease causes |
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Risk calculators and risk factors for Congenital heart disease causes |
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
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
Life Threatening Causes
Life-threatening causes include conditions which may result in death or permanent disability within 24 hours if left untreated.
Common Causes
- Aortic stenosis
- Atrial septal defect[1]
- Coarctation of the aorta
- Down syndrome[2]
- Ebstein's anomaly
- Endocardial cushion defect
- Hypoplastic left heart syndrome
- Noonan syndrome[2]
- Patent ductus arteriosus
- Pulmonary atresia
- Pulmonic stenosis
- Tetralogy of Fallot [3]
- Total anomalous pulmonary venous connection
- Transposition of the great vessels
- Turner syndrome
- Ventricular septal defect
Causes by Organ System
| Cardiovascular | No underlying causes |
| Chemical / poisoning | No underlying causes |
| Dermatologic | No underlying causes |
| Drug Side Effect | No underlying causes |
| Ear Nose Throat | No underlying causes |
| Endocrine | No underlying causes |
| Environmental | No underlying causes |
| Gastroenterologic | No underlying causes |
| Genetic | No underlying causes |
| Hematologic | No underlying causes |
| Iatrogenic | No underlying causes |
| Infectious Disease | No underlying causes |
| Musculoskeletal / Ortho | No underlying causes |
| Neurologic | No underlying causes |
| Nutritional / Metabolic | No underlying causes |
| Obstetric/Gynecologic | No underlying causes |
| Oncologic | No underlying causes |
| Opthalmologic | No underlying causes |
| Overdose / Toxicity | No underlying causes |
| Psychiatric | No underlying causes |
| Pulmonary | No underlying causes |
| Renal / Electrolyte | No underlying causes |
| Rheum / Immune / Allergy | No underlying causes |
| Sexual | No underlying causes |
| Trauma | No underlying causes |
| Urologic | No underlying causes |
| Dental | No underlying causes |
| Miscellaneous | No underlying causes |
Causes in Alphabetical Order
References
- ↑ 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.
- ↑ 2.0 2.1 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.
- ↑ 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.
- ↑ 4.0 4.1 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.
- ↑ 5.0 5.1 5.2 5.3 5.4 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ Cortina H, Vidal J, Vallcanera A, Alberto C, Muro D, Dominguez F (1979). "Humero-spinal dysostosis". Pediatr Radiol. 8 (3): 188–90. PMID 112567.
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.