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SQTS: Difference between revisions
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<i>Auteur: Louise R.A. Olde Nordkamp</i> | <i>Auteur: Louise R.A. Olde Nordkamp</i> | ||
<i>Supervisor: Arthur A.M. Wilde</i> | <i>Supervisor: Arthur A.M. Wilde</i> | ||
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==Clinical diagnosis== | ==Clinical diagnosis== | ||
[[Image:ShortQT_syndrome_patient.png|thumb|right]] | [[Image:ShortQT_syndrome_patient.png|400px|thumb|right]] | ||
The diagnosis is based on the presence a short QT interval, in which the upper limit is mostly set on 330 ms. Males are more often affected than women. A history of cardiac arrest is present in one-third. Patients are at risk for both atrial arrhythmias (AF) and ventricular arrhythmias (VT/VF). | The diagnosis is based on the presence a short QT interval, in which the upper limit is mostly set on 330 ms. Males are more often affected than women. A history of cardiac arrest is present in one-third. Patients are at risk for both atrial arrhythmias (AF) and ventricular arrhythmias (VT/VF). | ||
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==Genetic diagnosis== | ==Genetic diagnosis== | ||
[[Image:ShortQT_syndrome_mechanism. | [[Image:ShortQT_syndrome_mechanism.svg|thumb|right]] | ||
In a quarter of the patients a mutation is found, predominantly in the KCNH2 gene (SQTS1). This gain-of-function mutation causes an increase in the potassium efflux and, subsequently, to a decrease of the myocyte refractory period. Mutations in the KCNQ1, KCNJ2 and possibly CACNxxx genes are also associated with the SQTS. | In a quarter of the patients a mutation is found, predominantly in the KCNH2 gene (SQTS1). This gain-of-function mutation causes an increase in the potassium efflux and, subsequently, to a decrease of the myocyte refractory period. Mutations in the KCNQ1, KCNJ2 and possibly CACNxxx genes are also associated with the SQTS. | ||