Compound heterozygous mutations in<i>KCNJ2</i>and<i>KCNH2</i>in a patient with severe Andersen-Tawil syndrome
説明
<jats:p>Andersen-Tawil syndrome (ATS) is a rare channelopathy, sometimes referred to as long QT syndrome type 7. ATS is an autosomal dominant disease predominantly caused by mutations in the<jats:italic>KCNJ2</jats:italic>gene. Patients with ATS present with episodes of muscle weakness, arrythmias, including prolonged QT intervals, and various skeletal abnormalities. Unlike other channelopathies, ATS has a relatively mild clinical course and low risk of sudden cardiac death. In this study, we describe a female patient with typical symptoms of ATS with the addition of unusually severe arrhythmias. Extensive DNA testing was performed to find the possible cause of this unique presentation. In addition to a known mutation in<jats:italic>KCNJ2</jats:italic>, the patient carried a variant in<jats:italic>KCNH2</jats:italic>. The combination of genetic variants may lead to the severe clinical manifestation of ATS. Additional genetic information allowed accurate genetic counselling to be provided to the patient.</jats:p>
収録刊行物
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- BMJ Case Reports
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BMJ Case Reports 13 (8), e235703-, 2020-08
BMJ
