Key result
A heterozygous missense mutation in LDB3 (c.1051A>G) was identified in a family with arrhythmogenic right ventricular cardiomyopathy, with 3 carriers fulfilling definitive diagnostic criteria.
Why the study?
Is a mutation in the LDB3 gene associated with arrhythmogenic right ventricular cardiomyopathy?
Population
A family evaluated for arrhythmogenic right ventricular cardiomyopathy
Design
Case_series
Authors
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LDB3 mutation linked to ARVC in one family; leaves open broader causality and screening utility pending replication.
Case Report
Is a mutation in the LDB3 gene associated with arrhythmogenic right ventricular cardiomyopathy?
This study identifies the first family with ARVC associated with a mutation in the LDB3 gene, highlighting the utility of next-generation sequencing for discovering new causative genes.
López-Ayala et al. (2014) conducted a case report in Arrhythmogenic right ventricular cardiomyopathy (ARVC). LDB3 c.1051A>G mutation was evaluated on Diagnosis of ARVC. A heterozygous missense mutation in LDB3 (c.1051A>G) was identified in a family with arrhythmogenic right ventricular cardiomyopathy, with 3 carriers fulfilling definitive diagnostic criteria.
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