Study shows loss of function of PLD1 gene is causal to congenital heart disease
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2 March 2021Study shows loss of function of PLD1 gene is causal to congenital heart disease
A team of researchers co-led by Michael Frohman, MD, Ph.D., of Stony Brook University, has identified an important cause of congenital heart disease. They discovered that certain loss of functions in the PLD1 (Phospholipase D1) gene causes congenital right-sided cardiac valve defects and neonatal cardiomyopathy. Their findings are detailed in a paper published early online in the Journal of Clinical Investigation.
