Key result
Carriers of the p.delKPQ1505-1507 mutation in the SCN5A gene exhibited an overlapping phenotype of both Long QT syndrome and Brugada syndrome.
Observational (n=18)
No
The p.delKPQ1505-1507 mutation in the SCN5A gene can manifest as an overlapping phenotype of Long QT and Brugada syndromes within the same family, highlighting the need for complex, individualized approaches to prevent sudden cardiac death.
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Alerts clinicians to possible LQT-Brugada overlap in SCN5A families; leaves open broader phenotypic implications pending larger studies.
BACKGROUND: The aim of the study was to analyze spectrum of manifestation and treatment response in large family with rhythm disturbances caused by p.delKPQ1505-1507 mutation in SCN5A gene. PATIENTS AND METHODS: We had under our observation 18 members of large Iranian family with various combination of inherited arrhythmic syndromes. Careful cardiological examination, genetic councelling and venous blood sampling for molecular genetic study were performed for family members. Mutation screening in SCN5A gene was performed using bidirectional Sanger sequencing. RESULTS: Here by we show the observation of Iranian family with known mutation p.delKPQ 1505-1507 in SCN5A gene, who display not only LQ-TS phenotype but also some of the carriers of this mutation have had LQ-TS and Brugada syndrome (combine phenotype), interestingly. CONCLUSION: The overlapping phenotype associated with high risk of sudden cardiac death may require complex approaches to antiarrhythmic therapy, surgical treatment and prevention of sudden cardiac death in the family.
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Saber et al. (2014) conducted an observational in Long QT syndrome and Brugada syndrome (n=18). p.delKPQ1505-1507 mutation in SCN5A gene vs. Non-carriers was evaluated on Phenotypic manifestation of LQTS and/or Brugada syndrome. Carriers of the p.delKPQ1505-1507 mutation in the SCN5A gene exhibited an overlapping phenotype of both Long QT syndrome and Brugada syndrome.
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