Article

Brugada Syndrome in Myotonic Dystrophy Type 2: First Report of an ANK2 Variant

2025-07-08

Abstract excerpt

Myotonic dystrophy type 2 (DM2) is an autosomal dominant multisystem disorder with known cardiac involvement, although associations with Brugada syndrome (BrS) are rare. BrS is a genetic arrhythmia syndrome characterized by ST-segment elevation in the right precordial leads and an increased risk of sudden cardiac death. While BrS is commonly linked to SCN5A mutations, other genes such as ANK2 have also been implic...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 74ad965e-8040-5a2d-bc05-d9ca532b3956
DOI: 10.20944/preprints202507.0677.v1

Open publication

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Click a neighbor to travelStep 1 · 12 closest

Brugada Syndrome in Myotonic Dystrophy Type 2: First Report of an ANK2 VariantDOI 10.20944/preprints202507.0677.v1Read

Novel Variant in the ANK2 Membrane-Binding Domain Is Associated With Ankyrin-B Syndrome and Structural Heart Disease in a First Nations Population With a High Rate of Long QT Syndrome.Semantic proximity Read

A novel three base-pair deletion in domain two of the cardiac sodium channel causes Brugada syndrome.Semantic proximity Read

Defining the cellular phenotype of "ankyrin-B syndrome" variants: human ANK2 variants associated with clinical phenotypes display a spectrum of activities in cardiomyocytes.Semantic proximity Read

The Brugada Syndrome: A Rare Arrhythmia Disorder with Complex InheritanceSemantic proximity Read

High-throughput genetic characterization of a cohort of Brugada syndrome patients.Semantic proximity Read

Phenotypic Variability of ANK2 Mutations in Patients With Inherited Primary Arrhythmia Syndromes.Semantic proximity Read

Myotonic dystrophy type 1 mimics and exacerbates Brugada phenotype induced by Nav1.5 sodium channel loss-of-function mutation.Semantic proximity Read

Genetic Analysis of Arrhythmogenic Diseases in the Era of NGS: The Complexity of Clinical Decision-Making in Brugada Syndrome.Semantic proximity Read

Disease-targeted sequencing of ion channel genes identifies de novo mutations in patients with non-familial Brugada syndrome.Semantic proximity Read

Challenges in Brugada Syndrome Stratification: Investigating SCN5A Mutation Localization and Clinical Phenotypes.Semantic proximity Read

Common human ANK2 variant confers in vivo arrhythmia phenotypes.Semantic proximity Read

An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing.Semantic proximity Read