Congenital heart disease causes: Difference between revisions
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Where a cause is known, it may be of a multifactorial origin and/or a result of genetic [[predisposition]] and environmental factors. | Where a cause is known, it may be of a multifactorial origin and/or a result of genetic [[predisposition]] and environmental factors. | ||
Known genetic causes of heart disease includes chromosomal abnormalities such as [[trisomy|trisomies]] [[ | Known genetic causes of heart disease includes chromosomal abnormalities such as [[trisomy|trisomies]] [[down syndrome|21]], [[patau's syndrome|13]], and [[edward's syndrome|18]], as well as a range of newly recognized genetic [[point mutation]]s, [[point deletion]]s and other genetic abnormalities as seen in syndromes such as [[Chromosome 22, microdeletion 22 q11|CATCH 22]], familial [[ASD]] with [[heart block]], [[alagille syndrome]], [[noonan syndrome]], and many more. | ||
Known [[antenatal]] environmental factors include maternal [[infection]]s ([[ | Known [[antenatal]] environmental factors include maternal [[infection]]s ([[rubella]]), [[medication|drugs]] ([[alcoholic beverage|alcohol]], [[hydantoin]], [[lithium]] and [[thalidomide]]) and maternal illness ([[diabetes mellitus]], [[phenylketonuria]], and [[lupus erythematosus|systemic lupus erythematosus]]).<ref name="Epstein"> Epstein AE, DiMarco JP, Ellenbogen KA, Estes NAM III, Freedman RA, Gettes LS, Gillinov AM, Gregoratos G, Hammill SC, Hayes DL, Hlatky MA, Newby LK, Page RL, Schoenfeld MH, Silka MJ, Stevenson LW, Sweeney MO. ACC/AHA/HRS 2008 guidelines for device-based therapy of cardiac rhythm abnormalities: executive summary: a report of the American College of Cardiology/American Heart Association Task Force on Practice Guidelines (Writing Committee to Revise the ACC/AHA/NASPE 2002 Guideline Update for Implantation of Cardiac Pacemakers and Antiarrhythmia Devices). Circulation. 2008; 117: 2820–2840. PMID 18483207 </ref> | ||
==References== | ==References== |
Revision as of 15:54, 4 March 2013
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor-In-Chief: Priyamvada Singh, MBBS [2] Assistant Editor-In-Chief: Kristin Feeney, B.S. [3]
Overview
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
Current knowledge regarding the causes of congenital heart disease is limited. Most research has been based on small studies(<1,000 patients). Congenital heart disease is multi-factorial in origin, with genetics and environmental factors both playing a role.
Where a cause is known, it may be of a multifactorial origin and/or a result of genetic predisposition and environmental factors.
Known genetic causes of heart disease includes chromosomal abnormalities such as trisomies 21, 13, and 18, as well as a range of newly recognized genetic point mutations, point deletions and other genetic abnormalities as seen in syndromes such as CATCH 22, familial ASD with heart block, alagille syndrome, noonan syndrome, and many more.
Known antenatal environmental factors include maternal infections (rubella), drugs (alcohol, hydantoin, lithium and thalidomide) and maternal illness (diabetes mellitus, phenylketonuria, and systemic lupus erythematosus).[1]
References
- ↑ Epstein AE, DiMarco JP, Ellenbogen KA, Estes NAM III, Freedman RA, Gettes LS, Gillinov AM, Gregoratos G, Hammill SC, Hayes DL, Hlatky MA, Newby LK, Page RL, Schoenfeld MH, Silka MJ, Stevenson LW, Sweeney MO. ACC/AHA/HRS 2008 guidelines for device-based therapy of cardiac rhythm abnormalities: executive summary: a report of the American College of Cardiology/American Heart Association Task Force on Practice Guidelines (Writing Committee to Revise the ACC/AHA/NASPE 2002 Guideline Update for Implantation of Cardiac Pacemakers and Antiarrhythmia Devices). Circulation. 2008; 117: 2820–2840. PMID 18483207