Ellis-van Creveld syndrome

Ellis-van Creveld syndrome

Brief Review

Ellis-van Creveld syndrome is an autosomal recessive disorder with single atrium as the hallmark cardiovascular defect. Single atrium is sixty percent of the cases. Other cardiac defects like those of mitral and tricuspid valve, patent ductus arteriosus, ventricular septal defect and even hypoplastic left heart syndrome have been described.

The affected individuals have short limbs and hence short stature, short ribs, polydactyly and dysplasia of teeth and nails. The syndrome was described by Richard WB Ellis and Simon van Creveld.1 History tells us that they met on a train on the way to a pediatrics conference in England and each had a patient with this syndrome.

Ellis-van Creveld syndrome (EVC) gene is localised to the chromosome 4p16. Two genes – EVC and EVC2 have been involved in mutations. But the clinical features are similar for mutations in both genes. The syndrome can manifest if there is a homozygous or compound heterozygous genotype. Prenatal diagnosis is feasible with ultrasonography.2

In postnatal diagnosis, the physical characteristics of short stature, polydactyly and dysplastic nails are useful clues. Gingival hypertrophy and multiple frenula may be noted. Cardiovascular system examination will show features of atrial septal defect with mild cyanosis. Electrocardiogram shows left axis deviation as in ostium primum atrial septal defect. Echocardiogram shows single atrial chamber with total absence of septal tissue.3

Prognosis in neonatal period is determined by the narrow thoracic cage with respiratory distress, with the cardiac defect contributing to the morbidity.

References

  1. Ellis RWB and van Creveld S. A syndrome characterized by ectodermal dysplasia, polydactyly, chondro-dysplasia and congenital morbus cordis: report of three cases. Arch Dis Child. 1940;15:65-84.
  2. Qureshi F et al. Skeletal histopathology in fetuses with chondroectodermal dysplasia (Ellis-van Creveld syndrome). Am J Med Genet. 1993; 45:471-476.
  3. Sajeev CG et al. Common atrium in a child with Ellis-Van Creveld syndrome. Heart 2002;88:142.