LQT7

LQT7, also known as long QT syndrome type 7, is a genetic disorder characterized by prolonged QT intervals on an electrocardiogram (ECG), which can lead to life-threatening arrhythmias. The QT interval represents the time it takes for the heart's electrical activity to complete one cycle. In LQT7, mutations in the KCNH2 gene, which encodes the HERG potassium channel, result in a reduced number of functional potassium channels. This leads to a delay in the repolarization of the heart's ventricles, causing the QT interval to be prolonged.

LQT7 is inherited in an autosomal dominant pattern, meaning that a single copy of the mutated gene from one parent is sufficient to cause the disorder. The condition typically presents in childhood or adolescence, with symptoms such as syncope (fainting), seizures, and sudden cardiac death. The risk of sudden cardiac death is higher in individuals with LQT7 compared to the general population.

Diagnosis of LQT7 is typically made through genetic testing, which identifies mutations in the KCNH2 gene. Treatment options for LQT7 include lifestyle modifications, such as avoiding triggers for arrhythmias, and the use of medications like beta-blockers and ICDs (implantable cardioverter-defibrillators) to prevent and treat arrhythmias. In some cases, surgical procedures may be necessary to correct the underlying heart condition.

LQT7 is a rare genetic disorder, with an estimated prevalence of less than 1 in 100,000 individuals. The condition is caused by a wide range of mutations in the KCNH2 gene, with no single mutation being responsible for the majority of cases. The prognosis for individuals with LQT7 varies depending on the severity of the condition and the effectiveness of treatment. With proper management, many individuals with LQT7 can lead normal, active lives.