Endocardial cushion defect pathophysiology: Difference between revisions

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Created page with "__NOTOC__ {{Endocardial cushion defect}} {{CMG}}; {{AE}} {{ADG}} ==Overview== The exact pathogenesis of [disease name] is not fully understood. OR It is thought that [disea..."
 
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{{CMG}}; {{AE}} {{ADG}}
{{CMG}}; {{AE}} {{ADG}}
==Overview==
==Overview==
The exact pathogenesis of [disease name] is not fully understood.
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]]


OR
<br />
 
It is thought that [disease name] is the result of / is mediated by / is produced by / is caused by either [hypothesis 1], [hypothesis 2], or [hypothesis 3].
 
OR
 
[Pathogen name] is usually transmitted via the [transmission route] route to the human host.
 
OR
 
Following transmission/ingestion, the [pathogen] uses the [entry site] to invade the [cell name] cell.
 
OR
 
 
[Disease or malignancy name] arises from [cell name]s, which are [cell type] cells that are normally involved in [function of cells].
 
OR
 
The progression to [disease name] usually involves the [molecular pathway].
 
OR
 
The pathophysiology of [disease/malignancy] depends on the histological subtype.


==Pathophysiology==
==Pathophysiology==
===Physiology===
===Physiology===
The normal physiology of [name of process] can be understood as follows:


===Pathogenesis===
* AV canal connects the atria to the ventricles.<ref name="pmid3343065">{{cite journal |vauthors=Wenink AC, Zevallos JC |title=Developmental aspects of atrioventricular septal defects |journal=Int. J. Cardiol. |volume=18 |issue=1 |pages=65–78 |date=January 1988 |pmid=3343065 |doi=10.1016/0167-5273(88)90031-9 |url=}}</ref>
*The exact pathogenesis of [disease name] is not completely understood.
* At four to five weeks of gestation, the superior and inferior endocardial cushions of the common AV canal fuse.<ref name="pmid13924605">{{cite journal |vauthors=VAN MIEROP LH, ALLEY RD, KAUSEL HW, STRANAHAN A |title=The anatomy and embryology of endocardial cushion defects |journal=J. Thorac. Cardiovasc. Surg. |volume=43 |issue= |pages=71–83 |date=January 1962 |pmid=13924605 |doi= |url=}}</ref>
OR
* Results in the formation of the mitral and tricuspid valve and the AV septum.
*It is understood that [disease name] is the result of / is mediated by / is produced by / is caused by either [hypothesis 1], [hypothesis 2], or [hypothesis 3].
*[Pathogen name] is usually transmitted via the [transmission route] route to the human host.
*Following transmission/ingestion, the [pathogen] uses the [entry site] to invade the [cell name] cell.
*[Disease or malignancy name] arises from [cell name]s, which are [cell type] cells that are normally involved in [function of cells].
*The progression to [disease name] usually involves the [molecular pathway].
*The pathophysiology of [disease/malignancy] depends on the histological subtype.


==Genetics==
=== Pathophysiology ===
[Disease name] is transmitted in [mode of genetic transmission] pattern.
Pathophysiology of endocardial cushion defects depends upon


OR
* Level of left to right shunting
* Degree of shunting
{| class="wikitable"
|+
!
!Level of left-to-right shunting
!Pathophysiology
|-
|'''Complete defect'''
|At the atrial and ventricular levels
|
* ↑ pulmonary blood flow
* Leading to heart failure and ↑ PVR
|-
|'''Partial defect'''
|At the level of the primum atrial septal defect
|
* Volume overload of the right atrium and ventricle and pulmonary vasculature.
* Pulmonary artery pressures are usually normal.
* Minimal symptoms
|-
|'''Transitional defect'''
|
* Shunting is minimal
** Due to a small and restrictive ventricular septal defect.
|
* Similar to those of partial canal defect
|}


Genes involved in the pathogenesis of [disease name] include:
=== AV valve regurgitation ===
*[Gene1]
*[Gene2]
*[Gene3]


OR
* 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==


The development of [disease name] is the result of multiple genetic mutations such as:
* There is a strong association between AV canal defects and [[Down syndrome]].<ref name="pmid1531166">{{cite journal |vauthors=Korenberg JR, Bradley C, Disteche CM |title=Down syndrome: molecular mapping of the congenital heart disease and duodenal stenosis |journal=Am. J. Hum. Genet. |volume=50 |issue=2 |pages=294–302 |date=February 1992 |pmid=1531166 |pmc=1682442 |doi= |url=}}</ref>


*[Mutation 1]
*Chromosome 21 has been designated an AV canal critical region.
*[Mutation 2]
*Trisomy 21 have an AV canal defect, usually the complete form
*[Mutation 3]


==Associated Conditions==
==Associated Conditions==
Conditions associated with [disease name] include:
Common cardiac conditions associated with endocardial cushion defect include:<ref name="pmid6878069">{{cite journal |vauthors=Peoples WM, Moller JH, Edwards JE |title=Polysplenia: a review of 146 cases |journal=Pediatr Cardiol |volume=4 |issue=2 |pages=129–37 |date=1983 |pmid=6878069 |doi=10.1007/BF02076338 |url=}}</ref><ref name="pmid9109222">{{cite journal |vauthors=Karl TR |title=Atrioventricular septal defect with tetralogy of Fallot or double-outlet right ventricle: surgical considerations |journal=Semin. Thorac. Cardiovasc. Surg. |volume=9 |issue=1 |pages=26–34 |date=January 1997 |pmid=9109222 |doi= |url=}}</ref>
 
*[Condition 1]
*[Condition 2]
*[Condition 3]
 
==Gross Pathology==
On gross pathology, [feature1], [feature2], and [feature3] are characteristic findings of [disease name].


==Microscopic Pathology==
*[[Tetralogy of Fallot]]
On microscopic histopathological analysis, [feature1], [feature2], and [feature3] are characteristic findings of [disease name].
*[[Transposition of the great vessels|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==
==References==

Latest revision as of 08:55, 20 April 2020

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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
  • ↑ pulmonary blood flow
  • Leading to heart failure and ↑ PVR
Partial defect At the level of the primum atrial septal defect
  • Volume overload of the right atrium and ventricle and pulmonary vasculature.
  • Pulmonary artery pressures are usually normal.
  • Minimal symptoms
Transitional defect
  • Shunting is minimal
    • Due to a small and restrictive ventricular septal defect.
  • Similar to those of partial canal defect

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

  • 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]

References

  1. ↑ 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.
  2. ↑ 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.
  3. ↑ 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.
  4. ↑ 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.
  5. ↑ 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.

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