What is the clinical evidence from this study?

Study design: Observational. Population: Cardiac conduction defect and atrial arrhythmias. Intervention: SCN5A D1275N mutation. Primary outcome: Presence of cardiac conduction defect and atrial arrhythmias.

What does this research mean for the field?

The SCN5A D1275N mutation causes cardiac conduction defects and atrial arrhythmias and is associated with risk of early-onset stroke. Novelty: ClaimNovelty.NOVEL_FINDING. Consensus alignment: ConsensusAlignment.NEUTRAL.

February 14, 2006Journal of Cardiovascular ElectrophysiologyOpen Access

SCN5A Mutation Associated with Cardiac Conduction Defect and Atrial Arrhythmias

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Key result

SCN5A D1275N mutation is linked to familial conduction defects and atrial arrhythmias.

Why the study?

The molecular defect underlying cardiac conduction defect and atrial arrhythmias in a Finnish family was unknown.

Population

Large Finnish family with cardiac conduction defect and atrial arrhythmias

Design

Observational genetic linkage and sequencing study

Authors

PLPäivi J. Laitinen-ForsblomCenter for HIV and Hepatogastroenterology PMPekka J. MäkynenTampere University Hospital HMHeikki MäkynenTampere University Hospital

Discussion

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Implication

SCN5A variant may explain familial conduction defects with atrial arrhythmias; leaves open broader screening utility pending replication.

Study Design

Type

Observational

PICO

Population

A large Finnish family with a history of cardiac conduction defects, atrial arrhythmias, and early-onset stroke evaluated for underlying molecular defects.

Exposure / Comparator

SCN5A D1275N mutation

Primary Outcome

Presence of cardiac conduction defect and atrial arrhythmias

Cite This Study

Laitinen-Forsblom et al. (2006) conducted an observational in Cardiac conduction defect and atrial arrhythmias. SCN5A D1275N mutation was evaluated on Presence of cardiac conduction defect and atrial arrhythmias. The SCN5A D1275N mutation was identified as the cause of cardiac conduction defects and atrial arrhythmias, present in all 6 affected family members and 2 asymptomatic individuals.

synapsesocial.com/papers/6ac487e7ae7d56f28438f6b8 https://doi.org/10.1111/j.1540-8167.2006.00411.x

Topics

Atrial fibrillation Persistent AF management

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SCN5A Mutation Associated with Cardiac Conduction Defect and Atrial Arrhythmias

Discussion

Member takes

Implication

Study Design

PICO

Cite This Study

Topics

SCN5A Mutation Associated with Cardiac Conduction Defect and Atrial Arrhythmias

Discussion

Member takes

Implication

Study Design

PICO

Cite This Study

Also Consider

Topics

Also Consider