Endocardial cushion defect
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Endocardial cushion defect Microchapters |
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Differentiating Endocardial cushion defect from other Diseases |
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Diagnosis |
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Endocardial cushion defect On the Web |
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American Roentgen Ray Society Images of Endocardial cushion defect |
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Risk calculators and risk factors for Endocardial cushion defect |
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
Historical Perspective
Classification
Based on the anatomical features and their impact on physiology, endocardial cushion defect may be classified into complete, partial, intermediate, transitional, and intermediate forms.
Pathophysiology
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
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.