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  • CN177654 has been replaced by C1865019, showing C1865019

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
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Autosomal dominant inheritance (HPO, OMIM, Orphanet)
 
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 GTR]

Additional descriptions

From OMIM
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).  http://www.omim.org/entry/609621
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.  https://ghr.nlm.nih.gov/condition/short-qt-syndrome

Clinical features

Atrial fibrillation
MedGen UID:
445
Concept ID:
C0004238
Finding
A disorder characterized by an electrocardiographic finding of a supraventricular arrhythmia characterized by the replacement of consistent P waves by rapid oscillations or fibrillatory waves that vary in size, shape and timing and are accompanied by an irregular ventricular response. (CDISC)
Syncope
MedGen UID:
21443
Concept ID:
C0039070
Sign or Symptom
A spontaneous loss of consciousness caused by insufficient blood supply to the brain.
Sudden cardiac death
MedGen UID:
38841
Concept ID:
C0085298
Pathologic Function
An unexpected natural death from a cardiac cause within a short time period from the onset of symptoms.(NICHD)
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  

Professional guidelines

PubMed

Ackerman MJ, Priori SG, Willems S, Berul C, Brugada R, Calkins H, Camm AJ, Ellinor PT, Gollob M, Hamilton R, Hershberger RE, Judge DP, Le Marec H, McKenna WJ, Schulze-Bahr E, Semsarian C, Towbin JA, Watkins H, Wilde A, Wolpert C, Zipes DP; Heart Rhythm Society (HRS).; European Heart Rhythm Association (EHRA).
Europace 2011 Aug;13(8):1077-109. doi: 10.1093/europace/eur245. PMID: 21810866

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. 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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