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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]])==


==[[Short QT syndrome type 2]] ([[SQT2]])==
==[[Short QT syndrome type 2]] ([[SQT2]])==

Revision as of 15:56, 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 (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. 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.
  2. 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.
  3. 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.
  4. 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. 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.