Premium
Noncompaction cardiomyopathy in an infant with Walker–Warburg syndrome
Author(s) -
Abdullah Sarah,
Hawkins Cynthia,
Wilson Gregory,
Yoon Grace,
Mertens Luc,
Carter Melissa T.,
Guerin Andrea
Publication year - 2017
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.38394
Subject(s) - cardiomyopathy , medicine , cardiology , psychology , heart failure
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.