LVOTO

15% of congenital heart defects are left ventricular outflow tract obstructions (LVOTO). The prevalence of LVOTO in first-degree relatives is high (7-19%), but mutations in known genes (Notch1, Nkx2.5) are infrequent. In collaboration with the Departments of Paediatric Cardiology in Groningen and Utrecht, we are collecting patients and families and screening all first-degree family members.

By linking these data to SNP array data, we hope to identify new genes for LVOTO.

Principal investigators:

• Mieke Kerstjens-Frederikse, MD (contact person)
• Robert Hofstra PhD