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Short QT syndrome 2(SQT2)

MedGen UID:
355890
Concept ID:
C1865019
Disease or Syndrome
Synonyms: SQT2
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: HPO
Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous).
 
Gene (location): KCNQ1 (11p15.5-15.4)
OMIM®: 609621

Definition

Short QT syndrome is a cardiac channelopathy associated with a predisposition to atrial fibrillation and sudden cardiac death. Patients have a structurally normal heart, but electrocardiography (ECG) exhibits abbreviated QTc (Bazett's corrected QT) intervals of less than 360 ms (summary by Moreno et al., 2015). For a discussion of genetic heterogeneity of short QT syndrome, see SQT1 (609620). [from OMIM]

Additional description

From GHR
Short QT syndrome is a condition that can cause a disruption of the heart's normal rhythm (arrhythmia). In people with this condition, the heart (cardiac) muscle takes less time than usual to recharge between beats. The term "short QT" refers to a specific pattern of heart activity that is detected with an electrocardiogram (EKG), which is a test used to measure the electrical activity of the heart. In people with this condition, the part of the heartbeat known as the QT interval is abnormally short.If untreated, the arrhythmia associated with short QT syndrome can lead to a variety of signs and symptoms, from dizziness and fainting (syncope) to cardiac arrest and sudden death. These signs and symptoms can occur any time from early infancy to old age. This condition may explain some cases of sudden infant death syndrome (SIDS), which is a major cause of unexplained death in babies younger than 1 year. However, some people with short QT syndrome never experience any health problems associated with the condition.  http://ghr.nlm.nih.gov/condition/short-qt-syndrome

Clinical features

Atrial fibrillation
MedGen UID:
445
Concept ID:
C0004238
Finding
An arrhythmia is a problem with the speed or rhythm of the heartbeat. Atrial fibrillation (AF) is the most common type of arrhythmia. The cause is a disorder in the heart's electrical system. . Often, people who have AF may not even feel symptoms. But you may feel . -Palpitations -- an abnormal rapid heartbeat. -Shortness of breath. -Weakness or difficulty exercising. -Chest pain. -Dizziness or fainting. -Fatigue. -Confusion. AF can lead to an increased risk of stroke. In many patients, it can also cause chest pain, heart attack, or heart failure. . Doctors diagnose AF using family and medical history, a physical exam, and a test called an electrocardiogram (EKG), which looks at the electrical waves your heart makes. Treatments include medicines and procedures to restore normal rhythm. . NIH: National Heart, Lung, and Blood Institute.
Syncope
MedGen UID:
21443
Concept ID:
C0039070
Sign or Symptom
Fainting is a temporary loss of consciousness. If you're about to faint, you'll feel dizzy, lightheaded, or nauseous. Your field of vision may white out or black out. Your skin may be cold and clammy. You lose muscle control at the same time, and may fall down. Fainting usually happens when your blood pressure drops suddenly, causing a decrease in blood flow to your brain. It is more common in older people. Some causes of fainting include. -Heat or dehydration . -Emotional distress . -Standing up too quickly . -Certain medicines . -Drop in blood sugar . -Heart problems . When someone faints, make sure that the airway is clear and check for breathing. The person should stay lying down for 10-15 minutes. Most people recover completely. Fainting is usually nothing to worry about, but it can sometimes be a sign of a serious problem. If you faint, it's important to see your health care provider and find out why it happened. .
Sudden cardiac death
MedGen UID:
38841
Concept ID:
C0085298
Pathologic Function
The heart suddenly and unexpectedly stops beating resulting in death within a short time period (generally within 1 h of symptom onset).
Shortened QT interval
MedGen UID:
489827
Concept ID:
C0151879
Finding
Decreased time between the start of the Q wave and the end of the T wave as measured by the electrocardiogram (EKG).

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Recent clinical studies

Diagnosis

Bodi I, Franke G, Pantulu ND, Wu K, Perez-Feliz S, Bode C, Zehender M, zur Hausen A, Brunner M, Odening KE
J Cardiovasc Electrophysiol 2013 Oct;24(10):1163-71. Epub 2013 May 29 doi: 10.1111/jce.12178. [Epub ahead of print] PMID: 23718892
Maluli HA, Meshkov AB
Cleve Clin J Med 2013 Jan;80(1):41-7. doi: 10.3949/ccjm.80a.12029. PMID: 23288944

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