HEART DISEASE IN VELO-CARDIO-FACIAL SYNDROME (SVCF)

Abstract

Velo-cardio-facial syndrome or chromosome deletion 22q11.2, is the most common chromosomal microdeletia, estimated at approx. 1:4000 people. The syndrome is a heterogeneous entity that includes multiple birth defects: cardiac, facial, gastrointestinal, renal, thymic hypoplasia, palate abnormalities, variable cognitive retardation, behavioral phenotypes, and psychiatric disorders. Management involves a multidisciplinary approach by a team of specialists: geneticist, cardiologist, surgeon, neurologist, immunologist, endocrinologist, psychiatrist.

Keywords

• velo-cardio-facial
• congenital heart defects
• chromosome deletion 22q11.2