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{{SK}} Atrioventricular septal defect; atrioventricular canal defect; AV canal defect; AV septal defects; canalis atrioventricularis communis; persistent atrioventricular ostium; abnormal development of endocardial cushions
{{SK}} Atrioventricular septal defect; atrioventricular canal defect; AV canal defect; AV septal defects; canalis atrioventricularis communis; persistent atrioventricular ostium; abnormal development of endocardial cushions


==Overview==
==[[Endocardial cushion defect overview|Overview]]==


==Historical Perspective==
==[[Endocardial cushion defect classification|Classification]]==
 
==[[Endocardial cushion defect pathophysiology|Pathophysiology]]==
==Classification==
==[[Endocardial cushion defect causes|Causes]]==
Based on the anatomical features and their impact on physiology, endocardial cushion defect may be classified into complete, partial, intermediate, transitional, and intermediate forms.
==[[Endocardial cushion defect differential diagnosis|Differentiating Endocardial cushion Defect from Other Diseases]]==
 
==[[Endocardial cushion defect epidemiology and demographics|Epidemiology and Demographics]]==
==Pathophysiology==
==[[Endocardial cushion defect risk factors|Risk Factors]]==
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]]
==[[Endocardial cushion defect screening|Screening]]==
 
==[[Endocardial cushion defect natural history, complications and prognosis|Natural History, Complications, and Prognosis]]==
==Causes==
The most common cause of endocardial cushion defect is genetic mutations. Endocardial cushion defects are transmitted in families as an autosomal dominant. The characteristic pattern of genetic mutation has been attributed to trisomy 21 and [[Down syndrome]].
 
==Differentiating Xyz from Other Diseases==
The blowing [[holosystolic murmur]] of endocardial cushion defects must be distinguished from mitral regurtitaion, [[tricuspid regurgitation]] and a [[ventricular septal defect]]. Though ECG and chest x-ray may share some common features, echocardiography can be efficiently used for an accurate diagnosis.
 
==Epidemiology and Demographics==
The prevalence of endocardial cushion defect is approximately 300 to 400 per 1000,000 live births. There is no racial predilection to endocardial cushion defects and it affects men and women equally.
 
==Risk Factors==
There are no established risk factors for endocardial cushion defects. However, certain factors might increase risk of developing endocardial cushion  defect include [[down syndrome]], [[rubella]], [[alcohol]] consumption during [[pregnancy]], [[gestational diabetes]], [[smoking]] during pregnancy.
 
==Screening==
Routine fetal ultrasound during prenatal care can detect endocardial cushion defects. Diagnostic findings on fetal ultrasound suggestive of endocardial cushion defect include large defect at the crux of the heart that involves the atrial and ventricular septa and a large common AV valve.
 
==Natural History, Complications, and Prognosis==
 
If left untreated, majority of patients with endocardial cushion defect may progress to develop life threatening conditions. Common complications of endocardial cushion defect include [[Dilatation of the heart|dilatation of heart]],  [[pulmonary hypertension]], [[respiratory tract infections]] , and [[heart failure]]. Surgical mortality rate of patients with partial endocardial cushion defect is approximately 0.6%. For complete cushion defect the surgical mortality rate is 2.5-9%. Prognosis of endocardial cushion defect is generally good with treatment. However, some children might develop valvular and rhythm disorders after surgical correction.
==Diagnosis==
==Diagnosis==
===Diagnostic Study of Choice===
[[Endocardial cushion defect diagnostic study of choice|Diagnostic Study of Choice]]| [[Endocardial cushion defect history and symptoms|History and Symptoms]]| [[Endocardial cushion defect physical examination|Physical Examination]]| [[Endocardial cushion defect laboratory findings|Laboratory Findings]]| [[Endocardial cushion defect electrocardiogram|Electrocardiogram]]| [[Endocardial cushion defect x ray|X-ray]]| [[Endocardial cushion defect echocardiography and ultrasound|Echocardiography and Ultrasound]]| [[Endocardial cushion defect CT scan|CT scan]]| [[Endocardial cushion defect MRI|MRI]]| [[Endocardial cushion defect other imaging findings|Other Imaging Findings]]| [[Endocardial cushion defect other diagnostic studies|Other Diagnostic Studies]]
 
===History and Symptoms===
 
===Physical Examination===
 
===Laboratory Findings===
 
===Electrocardiogram===
 
===X-ray===
 
===Echocardiography and Ultrasound===
 
===CT scan===
 
===MRI===
 
===Other Imaging Findings===
 
===Other Diagnostic Studies===


==Treatment==
==Treatment==
===Medical Therapy===
[[Endocardial cushion defect medical therapy|Medical Therapy]]| [[Endocardial cushion defect interventions|Interventions]]| [[Endocardial cushion defect surgery|Surgery]]| [[Endocardial cushion defect primary prevention|Primary Prevention]]| [[Endocardial cushion defect secondary prevention|Secondary Prevention]]
 
=== Interventions ===
 
===Surgery===
 
===Primary Prevention===
 
===Secondary Prevention===


==References==
==References==

Latest revision as of 00:21, 7 June 2020

Endocardial cushion defect Microchapters

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Overview

Classification

Pathophysiology

Causes

Differentiating Endocardial cushion defect from other Diseases

Epidemiology and Demographics

Risk Factors

Screening

Natural History, Complications and Prognosis

Diagnosis

Diagnostic Study of Choice

History and Symptoms

Physical Examination

Laboratory Findings

Electrocardiogram

X-ray

Echocardiography and Ultrasound

CT scan

MRI

Other Imaging Findings

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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]
Synonyms and keywords: Atrioventricular septal defect; atrioventricular canal defect; AV canal defect; AV septal defects; canalis atrioventricularis communis; persistent atrioventricular ostium; abnormal development of endocardial cushions

Overview

Classification

Pathophysiology

Causes

Differentiating Endocardial cushion Defect from Other Diseases

Epidemiology and Demographics

Risk Factors

Screening

Natural History, Complications, and Prognosis

Diagnosis

Diagnostic Study of Choice| History and Symptoms| Physical Examination| Laboratory Findings| Electrocardiogram| X-ray| Echocardiography and Ultrasound| CT scan| MRI| Other Imaging Findings| Other Diagnostic Studies

Treatment

Medical Therapy| Interventions| Surgery| Primary Prevention| Secondary Prevention

References


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