Noncompaction cardiomyopathy in an infant with Walker-Warburg syndrome

被引：7

作者：

Abdullah, Sarah ^{[1
]}

Hawkins, Cynthia ^{[2
]}

Wilson, Gregory ^{[2
]}

Yoon, Grace ^{[3
]}

Mertens, Luc ^{[4
]}

Carter, Melissa T. ^{[5
]}

Guerin, Andrea ^{[1
,3
]}

机构：

[1] Queens Univ, Kingston Gen Hosp, Dept Pediat, Div Med Genet, Kingston, ON, Canada

[2] Hosp Sick Children, Dept Pediat Lab Med, Div Pathol, Toronto, ON, Canada

[3] Univ Toronto, Hosp Sick Children, Dept Pediat, Div Clin & Metab Genet, Toronto, ON, Canada

[4] Univ Toronto, Hosp Sick Children, Div Cardiol, Toronto, ON, Canada

[5] Childrens Hosp Eastern Ontario, Reg Genet Program, Ottawa, ON, Canada

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2017年 / 173卷 / 11期

关键词：

cardiomyopathy; congenital muscular dystrophy; Walker-Warburg syndrome; CONGENITAL MUSCULAR-DYSTROPHIES; MUTATION;

D O I：

10.1002/ajmg.a.38394

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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 -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 -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.

引用

页码：3082 / 3086

页数：5

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