Key result
A patient with Walker-Warburg syndrome and POMT2 mutations presented with heart failure related to noncompaction cardiomyopathy, resulting in death at 4 months of age.
Case Report (n=1)
This case report expands the phenotypic spectrum of Walker-Warburg syndrome to include noncompaction cardiomyopathy.
May signal noncompaction cardiomyopathy in Walker-Warburg syndrome; leaves open frequency and screening implications pending additional cases.
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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Abdullah et al. (2017) conducted a case report in Walker-Warburg syndrome and noncompaction cardiomyopathy (n=1). Walker-Warburg syndrome with POMT2 mutations was evaluated on Clinical presentation and outcome. A patient with Walker-Warburg syndrome and POMT2 mutations presented with heart failure related to noncompaction cardiomyopathy, resulting in death at 4 months of age.
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