Endocardial cushion defect pathophysiology
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Aditya Ganti M.B.B.S. [2]
Overview
AV canal connects the atria to the ventricles. At four to five weeks of gestation, the superior and inferior endocardial cushions of the common AV canal fuse. Results in the formation of the mitral and tricuspid valve and the AV septum. Any failure of fusion results in endocardial cushion defect. Pathophysiology of endocardial cushion defects depends upon level of left to right shunting and degree of shunting. Incompetent AV valves in endocardial cushion defect results in regurgitation. There is a strong association between AV canal defects and Down syndrome
Pathophysiology
Physiology
- AV canal connects the atria to the ventricles.[1]
- At four to five weeks of gestation, the superior and inferior endocardial cushions of the common AV canal fuse.[2]
- Results in the formation of the mitral and tricuspid valve and the AV septum.
Pathophysiology
Pathophysiology of endocardial cushion defects depends upon
- Level of left to right shunting
- Degree of shunting
| Level of left-to-right shunting | Pathophysiology | |
|---|---|---|
| Complete defect | At the atrial and ventricular levels |
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| Partial defect | At the level of the primum atrial septal defect |
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| Transitional defect |
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AV valve regurgitation
- AV valves are incompetent in endocardial cushion defect resulting in regurgitation
- In complete defects, regurgitation through LV to LA or RV to RA.
- In partial defects, most of the regurgitation is from LV to LA through the cleft in the anterior mitral valve leaflet.
Genetics
- There is a strong association between AV canal defects and Down syndrome.[3]
- Chromosome 21 has been designated an AV canal critical region.
- Trisomy 21 have an AV canal defect, usually the complete form
Associated Conditions
Common cardiac conditions associated with endocardial cushion defect include:[4][5]
- Tetralogy of Fallot
- Transposition of the great arteries
- Patent ductus arteriosus
- Coarctation of the aorta
- Absent atrial septum
- Persistent left superior vena cava
- Anomalous pulmonary venous connection
References
- ↑ Wenink AC, Zevallos JC (January 1988). "Developmental aspects of atrioventricular septal defects". Int. J. Cardiol. 18 (1): 65–78. doi:10.1016/0167-5273(88)90031-9. PMID 3343065.
- ↑ VAN MIEROP LH, ALLEY RD, KAUSEL HW, STRANAHAN A (January 1962). "The anatomy and embryology of endocardial cushion defects". J. Thorac. Cardiovasc. Surg. 43: 71–83. PMID 13924605.
- ↑ Korenberg JR, Bradley C, Disteche CM (February 1992). "Down syndrome: molecular mapping of the congenital heart disease and duodenal stenosis". Am. J. Hum. Genet. 50 (2): 294–302. PMC 1682442. PMID 1531166.
- ↑ Peoples WM, Moller JH, Edwards JE (1983). "Polysplenia: a review of 146 cases". Pediatr Cardiol. 4 (2): 129–37. doi:10.1007/BF02076338. PMID 6878069.
- ↑ Karl TR (January 1997). "Atrioventricular septal defect with tetralogy of Fallot or double-outlet right ventricle: surgical considerations". Semin. Thorac. Cardiovasc. Surg. 9 (1): 26–34. PMID 9109222.