Short QT syndrome classification: Difference between revisions
No edit summary |
|||
| Line 8: | Line 8: | ||
==Short QT syndrome type 1 (SQT1)== | ==Short QT syndrome type 1 (SQT1)== | ||
This variant is due to a gain-of-function mutation of the rapid component of the delayed rectifier potassium current HERG ([[KCNH2]]) channel(IKr)<ref name="pmid14676148">{{cite journal | author = Brugada R, Hong K, Dumaine R, Cordeiro J, Gaita F, Borggrefe M, Menendez TM, Brugada J, Pollevick GD, Wolpert C, Burashnikov E, Matsuo K, Wu YS, Guerchicoff A, Bianchi F, Giustetto C, Schimpf R, Brugada P, Antzelevitch C | title = Sudden death associated with short-QT syndrome linked to mutations in HERG | journal = [[Circulation]] | volume = 109 | issue = 1 | pages = 30–5 | year = 2004 | month = January | pmid = 14676148 | doi = 10.1161/01.CIR.0000109482.92774.3A | url = http://circ.ahajournals.org/cgi/pmidlookup?view=long&pmid=14676148 | issn = | accessdate = 2012-09-02}}</ref>. The variant is a result of missense mutations which increase IKr. It is associated with [[sudden death]] and [[sudden infant death syndrome]]. | This variant is due to a gain-of-function mutation of the rapid component of the delayed rectifier potassium current HERG ([[KCNH2]]) channel(IKr)<ref name="pmid14676148">{{cite journal | author = Brugada R, Hong K, Dumaine R, Cordeiro J, Gaita F, Borggrefe M, Menendez TM, Brugada J, Pollevick GD, Wolpert C, Burashnikov E, Matsuo K, Wu YS, Guerchicoff A, Bianchi F, Giustetto C, Schimpf R, Brugada P, Antzelevitch C | title = Sudden death associated with short-QT syndrome linked to mutations in HERG | journal = [[Circulation]] | volume = 109 | issue = 1 | pages = 30–5 | year = 2004 | month = January | pmid = 14676148 | doi = 10.1161/01.CIR.0000109482.92774.3A | url = http://circ.ahajournals.org/cgi/pmidlookup?view=long&pmid=14676148 | issn = | accessdate = 2012-09-02}}</ref>. The variant is a result of missense mutations which increase IKr. It is associated with [[sudden death]] and [[sudden infant death syndrome]]. | ||
==Short QT syndrome type 2 (SQT2)== | ==[[Short QT syndrome type 2]] (SQT2)== | ||
==Short QT syndrome type 3 (SQT3)== | ==Short QT syndrome type 3 (SQT3)== | ||
Revision as of 17:16, 3 September 2012
|
Short QT syndrome Microchapters |
|
Diagnosis |
|---|
|
Case Studies |
|
Short QT syndrome classification On the Web |
|
American Roentgen Ray Society Images of Short QT syndrome classification |
|
Risk calculators and risk factors for Short QT syndrome classification |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
Five variants of short QT syndrome have been characterized based upon the underlying genetic mutation, the electrocardiographic phenotype, and the clinical manifestations of the variant.
Short QT syndrome type 1 (SQT1)
This variant is due to a gain-of-function mutation of the rapid component of the delayed rectifier potassium current HERG (KCNH2) channel(IKr)[1]. The variant is a result of missense mutations which increase IKr. It is associated with sudden death and sudden infant death syndrome.
Short QT syndrome type 2 (SQT2)
Short QT syndrome type 3 (SQT3)
This variant results from a G514A substitution in the KCNJ2 gene ( a change from aspartic acid to asparagine at position 172 (D172N))[2]. This causes a defect in the gene coding for the inwardly rectifying Kir2.1 (I(K1)) channel. The ECG shows asymmetrical T waves. These patients have an increased risk for re-entry arrhythmias.
Short QT syndrome type 4 (SQT4)
A loss of function mutation in the CACNA1C gene alters the encoding for the α1- and β2b-subunits of the L-type calcium channel. The phenotype is similar to Brugada syndrome combined with a short QT interval. There is an increased risk of sudden cardiac death.
Short QT syndrome type 5 (SQT5)
A loss of function mutation in the CACNB2B gene alters the encoding for the α1- and β2b-subunits of the L-type calcium channel. The phenotype is similar to Brugada syndrome combined with a short QT interval. There is an increased risk of sudden cardiac death.
References
- ↑ Brugada R, Hong K, Dumaine R, Cordeiro J, Gaita F, Borggrefe M, Menendez TM, Brugada J, Pollevick GD, Wolpert C, Burashnikov E, Matsuo K, Wu YS, Guerchicoff A, Bianchi F, Giustetto C, Schimpf R, Brugada P, Antzelevitch C (2004). "Sudden death associated with short-QT syndrome linked to mutations in HERG". Circulation. 109 (1): 30–5. doi:10.1161/01.CIR.0000109482.92774.3A. PMID 14676148. Retrieved 2012-09-02. Unknown parameter
|month=ignored (help) - ↑ Priori SG, Pandit SV, Rivolta I, Berenfeld O, Ronchetti E, Dhamoon A, Napolitano C, Anumonwo J, di Barletta MR, Gudapakkam S, Bosi G, Stramba-Badiale M, Jalife J (2005). "A novel form of short QT syndrome (SQT3) is caused by a mutation in the KCNJ2 gene". Circulation Research. 96 (7): 800–7. doi:10.1161/01.RES.0000162101.76263.8c. PMID 15761194. Retrieved 2012-09-02. Unknown parameter
|month=ignored (help)