Arrhythmias & electrophysiology
Systematic analysis of SCN5A variants associated with inherited cardiac diseases
Authors' conclusion
Most P/LP SCN5A variants were found in patients with primary electrical disorders, mainly Brugada syndrome. Nearly 20% were associated with overlap syndromes or pleiotropy
Study context
- Population
- Carriers of a heterozygous single pathogenic/likely pathogenic SCN5A variant among consecutive probands sequenced with a custom gene panel170 P/likely pathogenic (LP) variants
- Participants
- 495 carriers
- Outcome
- Phenotypes associated with P/LP SCN5A variants and prevalence of pleiotropy
Methodological detailsconsecutive probands, 13,510 consecutive probands (9960 with cardiomyopathies) sequenced with a custom gene panel
- Consecutive probands
- 13,510 consecutive probands (9960 with cardiomyopathies) sequenced with a custom gene panel
Main finding
As reported in the abstract
Phenotypes associated with P/LP SCN5A variants
- Variants exclusively associated with a single well-established phenotype
- 119 (70%)
- Brugada syndrome
- 91
- Type 3 long QT syndrome
- 15
- Progressive cardiac conduction disease
- 6
- Multifocal ectopic Purkinje-related premature contractions
- 4
- Sick sinus syndrome
- 3
- Variants associated with overlap syndromes or pleiotropy
- 32 (19%)
- Variants associated with atypical or unclear phenotypes
- 19 (11%)
Observational data: associations, not effects.
Further findings
DCM among carriers
- Variants carried by patients presenting with DCM (debatable genotype/phenotype link)
- 8
- SCN5A variants causing DCM among probands with cardiomyopathies
- 8/9960
Original publication
Systematic analysis of SCN5A variants associated with inherited cardiac diseases. Heart Rhythm. Published 10 August 2024. doi:10.
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