Short QT syndrome classification: Difference between revisions
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==Classification== | ==Classification== | ||
{| class="wikitable mw-collapsible" | |||
|+ | |||
! | |||
!Type | |||
!OMIM | |||
!Gene Location | |||
!Mutation | |||
!Protein | |||
!Notes | |||
|- | |||
!'''1''' | |||
!'''SQTS 1''' | |||
![https://www.omim.org/entry/609620?search=short%20qt%20syndrome&highlight=%28syndrome%7Csyndromic%29%20qt%20short '''609620'''] | |||
!'''7q 36.1''' | |||
! '''Mutation in the KCNH2 gene causing gain of function of α-subunit Ikr''' | |||
!Kv11.1 | |||
! | |||
|- | |||
|2 | |||
|SQTS 2 | |||
|[https://www.omim.org/entry/609621 609621] | |||
|11p15.5-p15.4 | |||
|Mutation in KCNQ1 causing gain of function of α-subunit Iks | |||
|Kv7.1 | |||
| | |||
|- | |||
|3 | |||
|SQTS 3 | |||
|[https://www.omim.org/entry/609622?search=short%20QT%20syndrome-3&highlight=%28syndrome%7Csyndrome3%29%20qt%20short 609622] | |||
|17q24.3 | |||
|Mutation in KCNJ2 gene causing gain of function of α-subunit IK1 | |||
|Kir2.1 | |||
| | |||
|- | |||
|4 | |||
|SQTS 4 | |||
| | |||
|12p13.3 | |||
|Mutation in CACNB2b causing loss of function of α-subunit IL,Ca | |||
|Cav1.2 | |||
| | |||
|- | |||
|5 | |||
|SQTS 5 | |||
| | |||
|10p12 | |||
|Mutation in CACNA1c causing loss of function of β2-subunit IL,Ca | |||
|Cavβ2 | |||
| | |||
|} | |||
<br /> | |||
==[[Short QT syndrome type 1]] ([[SQT1]])== | ==[[Short QT syndrome type 1]] ([[SQT1]])== | ||
Revision as of 11:25, 8 June 2020
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Short QT syndrome Microchapters |
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Diagnosis |
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Case Studies |
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Short QT syndrome classification On the Web |
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American Roentgen Ray Society Images of Short QT syndrome classification |
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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.
Classification
| Type | OMIM | Gene Location | Mutation | Protein | Notes | |
|---|---|---|---|---|---|---|
| 1 | SQTS 1 | 609620 | 7q 36.1 | Mutation in the KCNH2 gene causing gain of function of α-subunit Ikr | Kv11.1 | |
| 2 | SQTS 2 | 609621 | 11p15.5-p15.4 | Mutation in KCNQ1 causing gain of function of α-subunit Iks | Kv7.1 | |
| 3 | SQTS 3 | 609622 | 17q24.3 | Mutation in KCNJ2 gene causing gain of function of α-subunit IK1 | Kir2.1 | |
| 4 | SQTS 4 | 12p13.3 | Mutation in CACNB2b causing loss of function of α-subunit IL,Ca | Cav1.2 | ||
| 5 | SQTS 5 | 10p12 | Mutation in CACNA1c causing loss of function of β2-subunit IL,Ca | Cavβ2 |