Autosomal recessive
Caused by changes in both copies of the PLD1 gene, which makes phospholipase D1, an enzyme involved in cell signalling during heart valve development.
Signs and symptoms
Heart defects present at birth, most often affecting the right-sided valves, such as tricuspid valve abnormalities or pulmonary atresia, and sometimes an underdeveloped right ventricle. Severity varies, and some babies also have neonatal cardiomyopathy. Less often there are other heart malformations.
What a diagnosis changes
Assessment and lifelong follow-up by a congenital heart team, with surgery or catheter procedures as needed. Parents of an affected child are usually both carriers, so genetic counselling, carrier testing and fetal heart scans in future pregnancies can be discussed.
Genes analysed
