Contemporary management of congenital malformations of the heart in infants with Ellis - van Creveld syndrome: a report of nine cases.

INTRODUCTION: Ellis - van Creveld syndrome is an autosomal recessive disorder manifest by short-limb dwarfism, thoracic dystrophy, postaxial polydactyly, dysplastic nails and teeth, and an approximately 60% incidence of congenital malformations of the heart. Despite patients with Ellis - van Creveld syndrome being regarded as having a high surgical risk, few data are available regarding their outcomes following surgery for congenital malformations of the heart in the current era.

MATERIALS AND METHODS: In this retrospective report, we summarise the clinical observations and outcomes of nine infants with Ellis - van Creveld syndrome who underwent surgery for congenital malformations of the heart between 2004 and 2009.

RESULTS: We identified 15 patients with Ellis - van Creveld syndrome during the study period; 11 (73%) had haemodynamically significant congenital malformations of the heart warranting surgery. In two of these patients, surgery was not performed. Of the nine patients who underwent surgery, all of whom were infants, eight (89%) had various forms of an atrioventricular septal defect and one patient (11%) had hypoplastic left heart syndrome (mitral and aortic atresia). Among the nine patients who underwent surgery, four (44%) died at a median of 102 days with a range of 25-149 days post-operatively, mostly from respiratory failure. Respiratory morbidity was seen in all surviving patients, of whom three underwent tracheostomy.

CONCLUSIONS: Surgery for congenital malformations of the heart can be successful in infants with Ellis - van Creveld syndrome, but mortality is high and post-operative respiratory morbidity should be expected.