Andersen-Tawil syndrome: multi-system deep phenotyping of a large UK cohort
| العنوان: | Andersen-Tawil syndrome: multi-system deep phenotyping of a large UK cohort |
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| المؤلفون: | Vinojini Vivekanandam, Roope Mannikko, Doreen Fialho, A Merve, J Pattni, C Marini-Bettolo, K Savvatis, ER Behr, Michael Hanna, Emma Matthews |
| المصدر: | Journal of Neurology, Neurosurgery & Psychiatry. 93:A95.2-A95 |
| بيانات النشر: | BMJ, 2022. |
| سنة النشر: | 2022 |
| مصطلحات موضوعية: | Psychiatry and Mental health, Surgery, Neurology (clinical) |
| الوصف: | Andersen-Tawil Syndrome (ATS) is a rare channelopathy caused by mutations in the KCNJ2 gene that encodes the ubiquitously expressed Kir2.1 potassium channel. We describe key findings in a large UK cohort of 52 patients, pertinent to the diagnosis and management of ATS. We report a new point prevalence of0.105 per 100 000 (increased from 0.08 per 100 000).While ATS has historically been considered a triad of episodic weakness, cardiac arrhythmias and dys- morphic features, we show that there is considerable variability to this phenotype. Pure cardiac or muscle phenotypes may exist. The absence of dysmorphic features does not exclude the diagnosis. Similarly, a normal long exercise test was seen in five patients.Importantly, we identify that the phenotype includes a significant risk of cardiac morbidity and mortality with 13% of our cohort requiring cardiac defibrillator or pacemaker insertion and an additional 23% reporting syncope. Syncope has been recently associated with an increased risk of life threatening arhythmic events in this cohort. Severe fixed myopathy was seen in a quarter of our cohort with 14% requiring a wheelchair or gait aid.We additionally describe novel neurological features and report eight new KCNJ2 variants with in vitro functional data. We provide key clinical insights and management recommendations. We also identify new features which are interesting areas for future research and collaboration.v.vivekanandam@ucl.ac.uk |
| تدمد: | 1468-330X 0022-3050 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_________::9c30b4e2c404305afc096618b944a9bbTest https://doi.org/10.1136/jnnp-2022-abn.308Test |
| رقم الانضمام: | edsair.doi...........9c30b4e2c404305afc096618b944a9bb |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 1468330X 00223050 |
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