Noncompaction cardiomyopathy in an infant with Walker-Warburg syndrome

Am J Med Genet A. 2017 Nov;173(11):3082-3086. doi: 10.1002/ajmg.a.38394. Epub 2017 Oct 5.


Walker-Warburg syndrome (WWS) is a rare autosomal recessive, congenital muscular dystrophy that is associated with brain and eye anomalies. Several genes encoding proteins involved in α-dystroglycan glycosylation have been implicated in the aetiology of WWS. We describe a patient with nonclassical features of WWS presenting with heart failure related to noncompaction cardiomyopathy resulting in death at 4 months of age. Muscle biopsy revealed absent α-dystroglycan on immunostaining and genetic testing confirmed the diagnosis with two previously described POMT2 mutations. This is the first reported case of WWS syndrome associated with noncompaction cardiomyopathy.

Keywords: Walker-Warburg syndrome; cardiomyopathy; congenital muscular dystrophy.

Publication types

  • Case Reports

MeSH terms

  • Brain / pathology
  • Cardiomyopathies / complications
  • Cardiomyopathies / diagnosis
  • Cardiomyopathies / genetics*
  • Cardiomyopathies / pathology
  • Eye Abnormalities / genetics*
  • Eye Abnormalities / pathology
  • Genetic Predisposition to Disease
  • Humans
  • Infant
  • Male
  • Mannosyltransferases / genetics*
  • Mutation
  • Pedigree
  • Walker-Warburg Syndrome / complications
  • Walker-Warburg Syndrome / diagnosis
  • Walker-Warburg Syndrome / genetics*
  • Walker-Warburg Syndrome / pathology


  • Mannosyltransferases
  • protein O-mannosyltransferase