Preferred Label : Long QT syndrome type 3;
ICD-11 definition : The LQT3 type of long QT syndrome involves mutation of the gene that encodes the alpha
subunit of the Na ion channel. This gene is located on chromosome 3p21-24, and is
known as SCN5A (also hH1 and NaV1.5). The mutations involved in LQT3 slow the inactivation
of the Na channel, resulting in prolongation of the Na influx during depolarization.
However, the mutant sodium channels inactivate more quickly, and may open repetitively
during the action potential.;
Origin ID : 1181962223;
Automatic exact mappings (from CISMeF team)
The LQT3 type of long QT syndrome involves mutation of the gene that encodes the alpha
subunit of the Na ion channel. This gene is located on chromosome 3p21-24, and is
known as SCN5A (also hH1 and NaV1.5). The mutations involved in LQT3 slow the inactivation
of the Na channel, resulting in prolongation of the Na influx during depolarization.
However, the mutant sodium channels inactivate more quickly, and may open repetitively
during the action potential.
