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Practo

Diagnostic Tests

Short QT Syndrome

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Short QT Syndrome

Also known as Short Qt Syndrome Genetic Testing Blood
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What is this test?

Long QT syndrome (LQTS) is a genetic cardiac disorder characterized by QT prolongation and T-wave abnormalities on electrocardiogram (EKG), which may result in recurrent syncope, ventricular arrhythmia, and sudden cardiac death. Romano-Ward syndrome (RWS), which accounts for the majority of LQTS, follows an autosomal dominant inheritance pattern and is caused by pathogenic variants in genes that encode cardiac ion channels or associated proteins. The diagnosis of RWS is established by the prolongation of the QTc interval in the absence of other conditions or factors that may lengthen it, such as QT-prolonging drugs or structural heart abnormalities. Clinical factors such as a history of syncope and family history also contribute to the diagnosis of RWS. Timothy syndrome (TS) is a multisystem disorder involving prolonged QT interval in association with congenital anomalies that may include hand/foot syndactly, structural heart defects, facial dysmorphology, and neurodevelopmental features. Ventricular tachyarrhythmia is the leading cause of death with an average age of death of 2.5 years. TS is inherited in an autosomal dominant manner and usually occurs as a result of a de novo heterozygous variant in the CACNA1C gene.

Test Preparation

No special preparation is needed for Short QT Syndrome. Inform your doctor if you are on any medications or have any underlying medical conditions or allergies before undergoing Short QT Syndrome. Your doctor depending on your condition will give specific instructions.

Understanding your test results

GenderAge groupsValue
UNISEXAll age groupsGene Mutations are observed and reported
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