Preferred Label : Long QT syndrome type 2;
ICD-11 definition : The LQT2 type is the second most common gene location that is affected in long QT
syndrome, making up about 25 to 30 percent of all cases. This form of long QT syndrome
most likely involves mutations of the human ether-a-go-go related gene (hERG) on chromosome
7. The hERG gene (also known as KCNH2) is part of the rapid component of the potassium
rectifying current (IKr). (The IKr current is mainly responsible for the termination
of the cardiac action potential, and therefore the length of the QT interval.) The
normally functioning hERG gene allows protection against early after depolarizations
(EADs).;
Origin ID : 2041488028;
Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
The LQT2 type is the second most common gene location that is affected in long QT
syndrome, making up about 25 to 30 percent of all cases. This form of long QT syndrome
most likely involves mutations of the human ether-a-go-go related gene (hERG) on chromosome
7. The hERG gene (also known as KCNH2) is part of the rapid component of the potassium
rectifying current (IKr). (The IKr current is mainly responsible for the termination
of the cardiac action potential, and therefore the length of the QT interval.) The
normally functioning hERG gene allows protection against early after depolarizations
(EADs).
