Short QT syndrome

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Short QT syndrome (pronunciation: short kew-tee syndrome) is a rare genetic heart disorder characterized by a high risk of life-threatening irregular heartbeats (arrhythmias) and sudden death.

Etymology

The term "Short QT syndrome" is derived from the characteristic findings on an electrocardiogram (ECG) that are indicative of the disorder. The QT interval, which represents the time it takes for the heart muscle to contract and then recover, is shorter than normal in people with this condition.

Symptoms

People with Short QT syndrome may experience symptoms such as palpitations, fainting (syncope), and sudden death. These symptoms are often triggered by physical exertion or stress. However, some affected individuals may have no noticeable symptoms.

Causes

Short QT syndrome is caused by mutations in certain genes that are involved in the electrical activity of the heart. These include the KCNH2, KCNQ1, and KCNJ2 genes. The condition is inherited in an autosomal dominant manner, which means one copy of the altered gene in each cell is sufficient to cause the disorder.

Diagnosis

Diagnosis of Short QT syndrome is based on the clinical symptoms, family history, and the results of an ECG. Genetic testing may also be performed to confirm the diagnosis.

Treatment

Treatment for Short QT syndrome typically involves the use of medications to regulate the heart's rhythm, such as beta blockers and sotalol. In some cases, an implantable cardioverter-defibrillator (ICD) may be recommended to monitor the heart rhythm and deliver electrical shocks to restore a normal rhythm if necessary.

Prognosis

The prognosis for individuals with Short QT syndrome varies. Some people may live normal lives with appropriate treatment, while others may have severe symptoms and a high risk of sudden death.

See also

External links

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