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  • Title: Noncompaction cardiomyopathy in an infant with Walker-Warburg syndrome.
    Author: Abdullah S, Hawkins C, Wilson G, Yoon G, Mertens L, Carter MT, Guerin A.
    Journal: Am J Med Genet A; 2017 Nov; 173(11):3082-3086. PubMed ID: 28980384.
    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.
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