Key result
Mutations in ion channels, particularly SCN5A and HCN4, as well as regulatory and structural proteins, are major genetic causes of inherited sinoatrial and atrioventricular node dysfunctions.
Population
Patients with inherited forms of sinoatrial node and atrioventricular node dysfunction, and relevant…
Design
Review
Authors
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Supports genetic evaluation in familial nodal dysfunction; leaves open targeted interventions pending validation.
Channelopathies involving Na+, pacemaker (HCN), and Ca2+ channels are key drivers of inherited sinoatrial and atrioventricular node dysfunctions, highlighting the importance of genetic identification for targeted therapies.
Milanesi et al. (2015) conducted a review in Inherited sinoatrial dysfunction and atrioventricular node dysfunction. Genetic mutations (e.g., SCN5A, HCN4, Ca2+ channels) was evaluated. Mutations in ion channels, particularly SCN5A and HCN4, as well as regulatory and structural proteins, are major genetic causes of inherited sinoatrial and atrioventricular node dysfunctions.
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