Scientists have found the cause of congenital heart disease

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A team of researchers led by Michael Froman, MD, of Stony University -Brooke, identified an important cause of congenital heart disease. They found that a specific loss of function in the PLD1 (phospholipase D1) gene causes congenital right-sided heart valve defects and neonatal cardiomyopathy. 

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Congenital heart defects are the most common type of birth defects, accounting for a third of all congenital anomalies, occurring in seven cases per 1,000 births worldwide. Most of these defects involve abnormalities of valve formation. Right-sided congenital heart disease includes abnormalities of the pulmonary and tricuspid valves.

“PLD1 is an enzyme that breaks down a specific lipid found in all cells to generate a signal that changes the behavior of cells when they are stimulated by hormones, neurotransmitters and growth factors. “Many research groups have worked over the past quarter century to determine how PLD1 helps cells communicate with each other,” says Dr. Froman, co-author of the paper, chair of the Department of Pharmacological Sciences at the Renaissance School of Medicine, and professor emeritus at New York University.

He explains that congenital heart disease caused by loss of PLD1 function usually results in abnormal development of the heart valves in the right side of the heart, and sometimes in the right ventricle. This abnormal heart development sometimes prevents a live birth, and still in most other cases the newborns would not have survived without surgery or treatment.

The team used whole-exome sequencing in 2,718 cases of congenital heart defects and other approaches, to identify 30 patients from 21 non-consanguineous families of various origins with altered PLD1 genes on both chromosomes with a predominance of congenital heart valve defects. The study also showed that inhibiting PLD1 reduced endothelial-mesenchymal transition, an established key early stage in embryonic valve development around the seventh week of gestation. became non-functional.