Short QT Syndrome

Short QT Syndrome
Short QT Syndrome
ICD-10
ICD-10-KM
ICD-9-KM
Omim	, , , , and
Diseasesdb	11105
Mesh

Short QT Syndrome is a genetic disease in which the heart's electrical system is affected. The disease is characterized by a certain symptom complex, including shortening of the QT interval (≤ 300 ms), detected by electrocardiography , high and pointed teeth T. The anatomical structure of the myocardium remains normal. Short QT syndrome is inherited in an autosomal dominant manner.

Content

Symptoms

Patients with short QT syndrome often suffer from heart attacks, “unexplained” loss of consciousness ( syncope ).

Genetics

It is believed that mutations in the KCNH2 , KCNJ2, and KCNQ1 genes may be the cause of the disease. These genes encode the structure of special formations of heart cells - ion channels . These channels transport positively charged potassium microparticles (ions) inside and outside the cell, and play a crucial role in the functioning of the myocardium. Mutations of the KCNH2, KCNJ2, or KCNQ1 genes lead to increased potassium channel activity, which changes the normal potassium flow. This creates the conditions for heart rhythm disturbances, changes in the shape of the T wave and the duration of the QT interval.

Due to the hereditary nature of the disease and the dominant type of inheritance, in families of patients there are cases of sudden death at a young age (even in infancy), palpitations, atrial fibrillation.

Short QT syndrome is associated with an increased risk of sudden death, usually due to ventricular fibrillation.

Diagnosis

It is established on the basis of a characteristic history of the disease (history), ECG data and electrophysiological studies (EFI).

ECG

A typical finding is the shortening of the QT interval (usually less than 300 ms); however, its duration depends little on the frequency of the rhythm. High pointed T. teeth. Heart rhythm disturbances are possible - the so-called atrial rhythm or atrial fibrillation.

EFI

Patients have a short recovery period of the ability of the heart muscle to re-excite after the previous excitation (refractory period). With programmed stimulation, ventricular fibrillation is often reproduced.

Pathophysiology

Finally not clear.

Treatment

Implantation of a cardioverter-defibrillator is currently considered the most adequate method.