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

Noncompaction cardiomyopathy in an infant with Walker-Warburg syndrome.

Author information

1
Division of Medical Genetics, Department of Pediatrics, Kingston General Hospital, Queen's University, Kingston, Canada.
2
Division of Pathology, Department of Pediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Canada.
3
Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Canada.
4
Division of Cardiology, The Hospital for Sick Children, University of Toronto, Toronto, Canada.
5
Regional Genetics Program, The Children's Hospital of Eastern Ontario, Ottawa, Canada.

Abstract

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

PMID:
28980384
DOI:
10.1002/ajmg.a.38394
[Indexed for MEDLINE]

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