KEGG DISEASE: Short QT syndrome

KEGG

DISEASE: Short QT syndrome

Entry

H00725                      Disease

Name

Short QT syndrome

Description

Short QT syndrome (SQTS) is a cardiovascular disorder resulting from mutations in cardiac ion channels. The mutation of genes (KCNH2, KCNQ1, and KCNJ2) encoding for cardiac potassium channels plays a central role in SQTS. SQTS is characterized by constantly short QT interval associated with atrial fibrillation, syncopal episodes, and sudden cardiac death. The implantable cardioverter defibrillator (ICD) therapy in patients with a short QT syndrome has an increased risk due to possible T wave oversensing.

Category

Cardiovascular disease

Brite

Human diseases in ICD-11 classification [BR:br08403]
11 Diseases of the circulatory system
  Cardiac arrhythmia
   BC65  Cardiac arrhythmia associated with genetic disorder
    H00725  Short QT syndrome

Gene

(SQT1) KCNH2 [HSA:3757] [KO:K04905]
(SQT2) KCNQ1 [HSA:3784] [KO:K04926]
(SQT3) KCNJ2 [HSA:3759] [KO:K04996]
(SQT7) SLC4A3 [HSA:6508] [KO:K13856]

Other DBs

ICD-11:

OMIM:

609620 609621 609622 620231

Reference

Authors

Schimpf R, Wolpert C, Gaita F, Giustetto C, Borggrefe M

Title

Short QT syndrome.

Journal

Cardiovasc Res 67:357-66 (2005)
DOI:10.1016/j.cardiores.2005.03.026

Reference

Authors

Zareba W, Cygankiewicz I

Title

Long QT syndrome and short QT syndrome.

Journal

Prog Cardiovasc Dis 51:264-78 (2008)
DOI:10.1016/j.pcad.2008.10.006

Reference

Authors

Crotti L, Taravelli E, Girardengo G, Schwartz PJ

Title

Congenital short QT syndrome.

Journal

Indian Pacing Electrophysiol J 10:86-95 (2010)

Reference

PMID:14676148 (SQT1)

Authors

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 109:30-5 (2004)
DOI:10.1161/01.CIR.0000109482.92774.3A

Reference

PMID:15159330 (SQT2)

Authors

Bellocq C, van Ginneken AC, Bezzina CR, Alders M, Escande D, Mannens MM, Baro I, Wilde AA

Title

Mutation in the KCNQ1 gene leading to the short QT-interval syndrome.

Journal

Circulation 109:2394-7 (2004)
DOI:10.1161/01.CIR.0000130409.72142.FE

Reference

PMID:15761194 (SQT3)

Authors

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

Title

A novel form of short QT syndrome (SQT3) is caused by a mutation in the KCNJ2 gene.

Journal

Circ Res 96:800-7 (2005)
DOI:10.1161/01.RES.0000162101.76263.8c

Reference

PMID:29167417 (SQT7)

Authors

Thorsen K, Dam VS, Kjaer-Sorensen K, Pedersen LN, Skeberdis VA, Jurevicius J, Treinys R, Petersen IMBS, Nielsen MS, Oxvig C, Morth JP, Matchkov VV, Aalkjaer C, Bundgaard H, Jensen HK

Title

Loss-of-activity-mutation in the cardiac chloride-bicarbonate exchanger AE3 causes short QT syndrome.

Journal

Nat Commun 8:1696 (2017)
DOI:10.1038/s41467-017-01630-0

LinkDB

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