Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Short-QT-Syndrom

Das Short-QT-Syndrom ist eine erbliche Herzrhythmustörung, die im EKG durch ein verkürztes QT-Intervall auffällt und durch rezidivierende ventrikuläre Tachykardien gekennzeichnet ist. Die Ursache liegt in Membantransportstörungen.

Gliederung

Hereditäre Arrhythmie
Long-QT-Syndrom
Short-QT-Syndrom
Short-QT-Syndrom 1
KCNH2
Short-QT-Syndrom 2
KCNQ1
Short-QT-Syndrom 3
KCNJ2

Referenzen:

1.

Hong K et. al. (2005) Short QT syndrome and atrial fibrillation caused by mutation in KCNH2.

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2.

Priori SG et. al. (2005) A novel form of short QT syndrome (SQT3) is caused by a mutation in the KCNJ2 gene.

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3.

Bellocq C et. al. (2004) Mutation in the KCNQ1 gene leading to the short QT-interval syndrome.

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4.

Gouas L et. al. (2005) Association of KCNQ1, KCNE1, KCNH2 and SCN5A polymorphisms with QTc interval length in a healthy population.

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5.

Schimpf R et. al. (2005) Short QT syndrome.

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6.

Moreno C et. al. (2015) A new KCNQ1 mutation at the S5 segment that impairs its association with KCNE1 is responsible for short QT syndrome.

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