November 1, 1995Journal of Cardiovascular Electrophysiology
Recent Advances in Understanding the Molecular Mechanisms of the Long QT Syndrome
Key result
Congenital long QT syndrome is a primary disease of cardiac ion channels caused by mutations in at least four chromosomal loci, including the SCN5A and HERG genes.
Why the study?
What are the molecular mechanisms underlying congenital long QT syndrome?
Population
Families and individuals with congenital long QT syndrome
Design
Review
Authors
Discussion
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Member takes
Implication
Supports genetic evaluation in suspected congenital LQTS; confirms ion channel mutations as mechanism while leaving targeted therapies open.
Structured PICO
What are the molecular mechanisms underlying congenital long QT syndrome?
P
Population
Families and individuals with congenital long QT syndrome
O
Outcome
Identification of chromosomal loci and specific gene mutations causing congenital long QT syndromesurrogate
This review establishes that congenital long QT syndrome is fundamentally an ion channelopathy caused by mutations in genes such as SCN5A and HERG.
Cite This Study
Roden et al. (1995) conducted a review in Congenital long QT syndrome. Congenital long QT syndrome is a primary disease of cardiac ion channels caused by mutations in at least four chromosomal loci, including the SCN5A and HERG genes.