Congenital heart disease causes
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Congenital heart disease Microchapters |
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Differentiating Congenital heart disease from other Disorders |
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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
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
- Ebstein's anomaly
- Endocardial cushion defect
- Hypoplastic left heart syndrome
- Noonan syndrome
- Patent ductus arteriosus
- Pulmonary atresia
- Pulmonic stenosis
- Tetralogy of Fallot
- Total anomalous pulmonary venous connection
- Transposition of the great vessels
- Tricuspid atresia
- Truncus arteriosus
- 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
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).[2]
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.
- ↑ 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