Compound heterozygous mutations in KCNJ2 and KCNH2 in a patient with severe Andersen-Tawil syndrome
| Autor: | Anna Shestak, Margarita E. Polyak, Dmitriy Podolyak, Elena Zaklyazminskaya |
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| Rok vydání: | 2020 |
| Předmět: |
ERG1 Potassium Channel
Heterozygote Pediatrics medicine.medical_specialty Genetic counseling Long QT syndrome Unusual Association of Diseases/Symptoms 030204 cardiovascular system & hematology Compound heterozygosity Severity of Illness Index Sudden cardiac death Young Adult 03 medical and health sciences 0302 clinical medicine Andersen–Tawil syndrome Channelopathy medicine Humans Potassium Channels Inwardly Rectifying Andersen Syndrome business.industry Muscle weakness Autosomal dominant trait General Medicine medicine.disease Pedigree Mutation Female medicine.symptom business 030217 neurology & neurosurgery |
| Zdroj: | BMJ Case Rep |
| ISSN: | 1757-790X |
| Popis: | 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 KCNJ2 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 KCNJ2, the patient carried a variant in KCNH2. 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. |
| Databáze: | OpenAIRE |
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