Endocardial cushion defect causes

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Aditya Ganti M.B.B.S. [2]

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.

• 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.

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