Health Dictionary
Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.
Endocardial cushion defect causes
Introduction
Overview
Overview
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.
Causes
Causes
- The most common cause of endocardial cushion defect is genetic mutations.[1]
- Endocardoal 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. Other common causes include
- Deletion of 8p
- Partial 10q monosomy
- Partial 13q monosomy
- Alteration of growth factor beta and platelet-derived growth factor in fetus during embryogenesis leads to cardiac tissue malformation.
References
References
- ↑ Craig B (December 2006). “Atrioventricular septal defect: from fetus to adult”. Heart. 92 (12): 1879–85. doi:10.1136/hrt.2006.093344. PMC 1861295. PMID 17105897.
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Aditya Ganti M.B.B.S. [2]