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
The exact pathogenesis of [disease name] is not fully understood.
OR
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
Physiology
The normal physiology of [name of process] can be understood as follows:
Pathogenesis
- The exact pathogenesis of [disease name] is not completely understood.
OR
- 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
- There is a strong association between AV canal defects and Down syndrome.[1]
- 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:[2]
- 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
Gross Pathology
On gross pathology, [feature1], [feature2], and [feature3] are characteristic findings of [disease name].
Microscopic Pathology
On microscopic histopathological analysis, [feature1], [feature2], and [feature3] are characteristic findings of [disease name].
References
- ↑ 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.