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Loss of functions in the PLD1 gene causes congenital heart disease A team of researchers co-led by Michael Frohman, MD, PhD, 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. Congenital heart disease is the most common type of birth defect, accounting for one-third of all congenital anomal...

March 1, 2021 4 min read A team of researchers co-led by SUNY Distinguished Professor Michael Frohman, MD, PhD, 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. Researchers Michael Frohman (rear center); fifth-year pharmacology student Christian Salazar (seated); fifth-year biochemistry...