Rare Association of a Patient with Alagille Syndrome and Mitral Valve Regurgitation

Introduction

Alagille syndrome is a rare autosomal dominant disorder associated with deletion on chromosome 20p recently mapped to 20p12-jagged-1 locus (JAG1). It is characterised by cholestasis due to intrahepatic bile duct hypoplasia, cardiovascular anomalies, ocular anomalies in the form of posterior embryotoxon, vertebral anomalies, renal abnormalities and a characteristic facial appearance [[1]]. Cardiovascular defects occur in up to 97 % of patients with Alagille syndrome, nearly all being branch pulmonary artery stenosis [[2]]. We report a case of a 9-year-old patient with Alagille syndrome and symptomatic mitral valve regurgitation who underwent mitral valve replacement with good haemodynamic results.

References

• 1 Alagille D, Estrada A, Hadchouel M. et al . Syndromic paucity of interlobular bile ducts (Alagille syndrome or arteriohepatic dysplasia): review of 80 cases.  J Pediatr. 1987;  110 195-200
• 2 Emerick K M, Rand E B, Goldmuntz E. et al . Features of Alagille syndrome in 92 patients: frequency and relation to prognosis.  Hepatology. 1999;  29 822-829
• 3 Deprettere A, Portmann B, Mowat A P. Syndromic paucity of the intrahepatic bile ducts: diagnostic difficulty; severe morbidity throughout early childhood.  J Pediatr Gastroenterol Nutr. 1987;  6 865-871
• 4 Silberbach M, Lashley D, Reller M D. et al . Arteriohepatic dysplasia and cardiovascular malformations.  Am Heart J. 1994;  127 695-699
• 5 McElhinney D B, Krantz I D, Bason L. et al . Analysis of cardiovascular phenotype and genotype-phenotype correlation in individuals with a JAG1 mutation and/or Alagille syndrome.  Circulation. 2002;  106 2567-2574