Characterization of a Unique Form of Arrhythmic Cardiomyopathy Caused by Recessive Mutation in LEMD2.
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ABSTRACT:
SUBMITTER: Abdelfatah N
PROVIDER: S-EPMC6488817 | biostudies-literature | 2019 Apr
REPOSITORIES: biostudies-literature
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Characterization of a Unique Form of Arrhythmic Cardiomyopathy Caused by Recessive Mutation in LEMD2.
Abdelfatah Nelly N Chen Ruping R Duff Henry J HJ Seifer Colette M CM Buffo Ilan I Huculak Cathleen C Clarke Stephanie S Clegg Robin R Jassal Davinder S DS Gordon Paul M K PMK Ober Carole C Frosk Patrick P Gerull Brenda B
JACC. Basic to translational science 20190429 2
Nuclear envelope proteins have been shown to play an important role in the pathogenesis of inherited dilated cardiomyopathy. Here, we present a remarkable cardiac phenotype caused by a homozygous <i>LEMD2</i> mutation in patients of the Hutterite population with juvenile cataract. Mutation carriers develop arrhythmic cardiomyopathy with mild impairment of left ventricular systolic function but severe ventricular arrhythmias leading to sudden cardiac death. Affected cardiac tissue from a deceased ...[more]
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