KEGG DISEASE: QT短縮症候群

DISEASE: QT短縮症候群

エントリ

H00725                      Disease

名称

QT短縮症候群

概要

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.

カテゴリ

循環器系疾患

階層分類

ICD-11 による疾患分類 [BR:jp08403]
11 循環器系の疾患
  不整脈
   BC65  遺伝性疾患に伴う不整脈
    H00725  QT短縮症候群

病因遺伝子

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

リンク

ICD-11:

BC65.2

MeSH:

C566506 C566505 C566504

OMIM:

609620 609621 609622 620231

文献

PMID:15890322

著者

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

タイトル

Short QT syndrome.

雑誌

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

文献

PMID:19026859

著者

Zareba W, Cygankiewicz I

タイトル

Long QT syndrome and short QT syndrome.

雑誌

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

文献

PMID:20126594

著者

Crotti L, Taravelli E, Girardengo G, Schwartz PJ

タイトル

Congenital short QT syndrome.

雑誌

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

文献

PMID:14676148 (SQT1)

著者

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

タイトル

Sudden death associated with short-QT syndrome linked to mutations in HERG.

雑誌

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

文献

PMID:15159330 (SQT2)

著者

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

タイトル

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

雑誌

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

文献

PMID:15761194 (SQT3)

著者

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

タイトル

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

雑誌

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

文献

PMID:29167417 (SQT7)

著者

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

タイトル

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

雑誌

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

LinkDB

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