Population
46 families with Long QT Syndrome (LQTS), including symptomatic and asymptomatic family members and probands
Design
Cohort
Key result
Genetic screening of 46 Long QT Syndrome families identified novel variations and compound heterozygosity in 18 probands (39.1%), highlighting the role of cardiac genes in a recessive fashion.
Authors
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May support LQTS family screening for risk stratification; leaves open recessive inheritance effects pending prospective validation.
Observational (n=46)
Genetic screening of LQTS families identifies novel variations and compound heterozygosity, aiding in risk stratification and predictive testing for first-degree relatives.
Qureshi et al. (2015) conducted an observational in Long QT Syndrome (LQTS) (n=46). Genetic screening was evaluated on Novel variations or compound heterozygosity in screened genes. Genetic screening of 46 Long QT Syndrome families identified novel variations and compound heterozygosity in 18 probands (39.1%), highlighting the role of cardiac genes in a recessive fashion.
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