Background and aims Absent pulmonary valve (APV) is a rare congenital defect of the right ventricular outflow tract (RVOT). The genetics of APV are unknown. However, mutations in the NOTCH-signalling pathway have been associated with RVOT obstruction. Mutations in the JAG-1 gene cause a broad spectrum of symptoms, ranging from an isolated heart defect to the complete clinical features of Alagille syndrome.
We present the case of a 14 month-old girl with APV and a family history of Alagille syndrome.
Methods Pulmonary stenosis and a large ventricular septal defect (VSD) had been diagnosed prenatally. Postnatal echocardiogram revealed an APV, pulmonary stenosis, a large sub-aortal VSD, and right ventricular hypertrophy.
Genetic analysis of the JAG-1 gene showed a frame-shift-mutation in exon 12 of the JAG-1 gene that had not been described before.
The patient underwent corrective heart surgery at 9 months of age. The VSD and the native pulmonary artery orifice were closed surgically. A valved xenograft conduit (Contegra®, 14 mm) was implanted between the RV and the pulmonary artery.
Results The last follow-up echocardiogram at 12 months of age demonstrated a sufficient pulmonary valve, closed VSD, resolving right ventricular hypertrophy and good biventricular function.
Conclusions Genetic mutations affecting the NOTCH-signalling pathway can be involved in the pathogenesis of APV. Therefore it is essential to characterise patients with NOTCH-signalling pathway defects by their clinical features and by the underlying mutations in order to develop future therapeutic approaches of APV.