Long QT syndrome type 2 (Q85875): Difference between revisions
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O tipo LQT2 é a segunda localização genética qué é mais comumente afetada na síndrome do QT longo, representando cerca de 25 a 30 por cento de todos os casos. Esta forma de síndrome do QT longo muito provavelmente envolve mutações do gene humano relacionado ao éter a-go-go (hERG) no cromossomo 7. O gene hERG (também conhecido como KCNH2) é parte do componente rápido da corrente retificadora de potássio (IKr). (A corrente IKr é principalmente responsável pelo término do potencial de ação cardíaco e, portanto, pela duração do intervalo QT). O gene hERG de funcionamento normal permite proteção contra pós-despolarizações precoces (PDP). | |||
| description / en | description / en | ||
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). | |||
Revision as of 11:14, 15 August 2026
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).
| Language | Label | Description | Also known as |
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| default for all languages | ID_2041488028 |
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| English | Long QT syndrome type 2 |
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). |
