Short QT syndrome classification: Difference between revisions
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!'''SQTS 1''' | !'''SQTS 1<ref name="pmid19862833">{{cite journal| author=Hedley PL, Jørgensen P, Schlamowitz S, Wangari R, Moolman-Smook J, Brink PA | display-authors=etal| title=The genetic basis of long QT and short QT syndromes: a mutation update. | journal=Hum Mutat | year= 2009 | volume= 30 | issue= 11 | pages= 1486-511 | pmid=19862833 | doi=10.1002/humu.21106 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=19862833 }} </ref><ref name="pmid14676148">{{cite journal| author=Brugada R, Hong K, Dumaine R, Cordeiro J, Gaita F, Borggrefe M | display-authors=etal| title=Sudden death associated with short-QT syndrome linked to mutations in HERG. | journal=Circulation | year= 2004 | volume= 109 | issue= 1 | pages= 30-5 | pmid=14676148 | doi=10.1161/01.CIR.0000109482.92774.3A | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=14676148 }} </ref>''' | ||
![https://www.omim.org/entry/609620?search=short%20qt%20syndrome&highlight=%28syndrome%7Csyndromic%29%20qt%20short '''609620'''] | ![https://www.omim.org/entry/609620?search=short%20qt%20syndrome&highlight=%28syndrome%7Csyndromic%29%20qt%20short '''609620'''] | ||
!'''7q 36.1''' | !'''7q 36.1''' | ||
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|SQTS 2 | |SQTS 2<ref name="pmid19862833">{{cite journal| author=Hedley PL, Jørgensen P, Schlamowitz S, Wangari R, Moolman-Smook J, Brink PA | display-authors=etal| title=The genetic basis of long QT and short QT syndromes: a mutation update. | journal=Hum Mutat | year= 2009 | volume= 30 | issue= 11 | pages= 1486-511 | pmid=19862833 | doi=10.1002/humu.21106 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=19862833 }} </ref><ref name="pmid15159330">{{cite journal| author=Bellocq C, van Ginneken AC, Bezzina CR, Alders M, Escande D, Mannens MM | display-authors=etal| title=Mutation in the KCNQ1 gene leading to the short QT-interval syndrome. | journal=Circulation | year= 2004 | volume= 109 | issue= 20 | pages= 2394-7 | pmid=15159330 | doi=10.1161/01.CIR.0000130409.72142.FE | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=15159330 }} </ref> | ||
|[https://www.omim.org/entry/609621 609621] | |[https://www.omim.org/entry/609621 609621] | ||
|11p15.5-p15.4 | |11p15.5-p15.4 | ||
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|SQTS 3 | |SQTS 3<ref name="pmid19862833">{{cite journal| author=Hedley PL, Jørgensen P, Schlamowitz S, Wangari R, Moolman-Smook J, Brink PA | display-authors=etal| title=The genetic basis of long QT and short QT syndromes: a mutation update. | journal=Hum Mutat | year= 2009 | volume= 30 | issue= 11 | pages= 1486-511 | pmid=19862833 | doi=10.1002/humu.21106 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=19862833 }} </ref><ref name="pmid15761194">{{cite journal| author=Priori SG, Pandit SV, Rivolta I, Berenfeld O, Ronchetti E, Dhamoon A | display-authors=etal| title=A novel form of short QT syndrome (SQT3) is caused by a mutation in the KCNJ2 gene. | journal=Circ Res | year= 2005 | volume= 96 | issue= 7 | pages= 800-7 | pmid=15761194 | doi=10.1161/01.RES.0000162101.76263.8c | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=15761194 }} </ref> | ||
|[https://www.omim.org/entry/609622?search=short%20QT%20syndrome-3&highlight=%28syndrome%7Csyndrome3%29%20qt%20short 609622] | |[https://www.omim.org/entry/609622?search=short%20QT%20syndrome-3&highlight=%28syndrome%7Csyndrome3%29%20qt%20short 609622] | ||
|17q24.3 | |17q24.3 | ||
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|SQTS 4 | |SQTS 4<ref name="pmid19862833">{{cite journal| author=Hedley PL, Jørgensen P, Schlamowitz S, Wangari R, Moolman-Smook J, Brink PA | display-authors=etal| title=The genetic basis of long QT and short QT syndromes: a mutation update. | journal=Hum Mutat | year= 2009 | volume= 30 | issue= 11 | pages= 1486-511 | pmid=19862833 | doi=10.1002/humu.21106 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=19862833 }} </ref><ref name="pmid17224476">{{cite journal| author=Antzelevitch C, Pollevick GD, Cordeiro JM, Casis O, Sanguinetti MC, Aizawa Y | display-authors=etal| title=Loss-of-function mutations in the cardiac calcium channel underlie a new clinical entity characterized by ST-segment elevation, short QT intervals, and sudden cardiac death. | journal=Circulation | year= 2007 | volume= 115 | issue= 4 | pages= 442-9 | pmid=17224476 | doi=10.1161/CIRCULATIONAHA.106.668392 | pmc=1952683 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=17224476 }} </ref> | ||
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|SQTS 5 | |SQTS 5<ref name="pmid19862833">{{cite journal| author=Hedley PL, Jørgensen P, Schlamowitz S, Wangari R, Moolman-Smook J, Brink PA | display-authors=etal| title=The genetic basis of long QT and short QT syndromes: a mutation update. | journal=Hum Mutat | year= 2009 | volume= 30 | issue= 11 | pages= 1486-511 | pmid=19862833 | doi=10.1002/humu.21106 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=19862833 }} </ref><ref name="pmid17224476">{{cite journal| author=Antzelevitch C, Pollevick GD, Cordeiro JM, Casis O, Sanguinetti MC, Aizawa Y | display-authors=etal| title=Loss-of-function mutations in the cardiac calcium channel underlie a new clinical entity characterized by ST-segment elevation, short QT intervals, and sudden cardiac death. | journal=Circulation | year= 2007 | volume= 115 | issue= 4 | pages= 442-9 | pmid=17224476 | doi=10.1161/CIRCULATIONAHA.106.668392 | pmc=1952683 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=17224476 }} </ref> | ||
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== Short QT Syndrome Type 1 == | |||
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==[[Short QT syndrome type 1]] ([[SQT1]])== | ==[[Short QT syndrome type 1]] ([[SQT1]])== | ||
Revision as of 15:04, 11 June 2020
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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[1][2] | 609620 | 7q 36.1 | Mutation in the KCNH2 gene causing gain of function of α-subunit Ikr | Kv11.1 | |
| 2 | SQTS 2[1][3] | 609621 | 11p15.5-p15.4 | Mutation in KCNQ1 causing gain of function of α-subunit Iks | Kv7.1 | |
| 3 | SQTS 3[1][4] | 609622 | 17q24.3 | Mutation in KCNJ2 gene causing gain of function of α-subunit IK1 | Kir2.1 | |
| 4 | SQTS 4[1][5] | 12p13.3 | Mutation in CACNB2b causing loss of function of α-subunit IL,Ca | Cav1.2 | ||
| 5 | SQTS 5[1][5] | 10p12 | Mutation in CACNA1c causing loss of function of β2-subunit IL,Ca | Cavβ2 |
Short QT Syndrome Type 1
Short QT syndrome type 1 (SQT1)
Short QT syndrome type 2 (SQT2)
Short QT syndrome type 3 (SQT3)
Short QT syndrome type 4 (SQT4)
Short QT syndrome type 5 (SQT5)
References
- ↑ 1.0 1.1 1.2 1.3 1.4 Hedley PL, Jørgensen P, Schlamowitz S, Wangari R, Moolman-Smook J, Brink PA; et al. (2009). "The genetic basis of long QT and short QT syndromes: a mutation update". Hum Mutat. 30 (11): 1486–511. doi:10.1002/humu.21106. PMID 19862833.
- ↑ Brugada R, Hong K, Dumaine R, Cordeiro J, Gaita F, Borggrefe M; et al. (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.
- ↑ Bellocq C, van Ginneken AC, Bezzina CR, Alders M, Escande D, Mannens MM; et al. (2004). "Mutation in the KCNQ1 gene leading to the short QT-interval syndrome". Circulation. 109 (20): 2394–7. doi:10.1161/01.CIR.0000130409.72142.FE. PMID 15159330.
- ↑ Priori SG, Pandit SV, Rivolta I, Berenfeld O, Ronchetti E, Dhamoon A; et al. (2005). "A novel form of short QT syndrome (SQT3) is caused by a mutation in the KCNJ2 gene". Circ Res. 96 (7): 800–7. doi:10.1161/01.RES.0000162101.76263.8c. PMID 15761194.
- ↑ 5.0 5.1 Antzelevitch C, Pollevick GD, Cordeiro JM, Casis O, Sanguinetti MC, Aizawa Y; et al. (2007). "Loss-of-function mutations in the cardiac calcium channel underlie a new clinical entity characterized by ST-segment elevation, short QT intervals, and sudden cardiac death". Circulation. 115 (4): 442–9. doi:10.1161/CIRCULATIONAHA.106.668392. PMC 1952683. PMID 17224476.