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PO-0050 Absent Pulmonary Valve In A Patient With Alagille Syndrome
  1. V Ziesenitz1,
  2. D Köhler1,
  3. C Gläser2,
  4. T Loukanov3,
  5. M Gorenflo1
  1. 1Pediatric Cardiology and Congenital Heart Diseases, Center for Childhood and Adolescent Medicine, Heidelberg, Germany
  2. 2Institute of Human Genetics and Medical Biology, Halle, Germany
  3. 3Section of Congenital Cardiac Surgery, Department of Cardiac Surgery, Heidelberg, Germany


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.

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