Andersen Tawil syndrome – a case study

The first case of a patient with periodic paralysis muscles accompanied by ventricular arrhythmias was described in 1963 Klein and colleagues[1]. In 1971, the team led E.D. Andersen published paper on familial coexistence neurological disorders dysmorphic features, suggesting new, unclassified disease syndrome [2]. Another report, this time Tawil team, analized 10 cases up to 4 new diagosed him, giving genetic basis for understanding mechanisms inheritance [3]. 2003, Tawilla named after Tawill (Andersen Syndrome - ATS).ATS (syn. long QTc syndrome, type 7, LQTS 7,) is rare disorder inherited an autosomal dominant manner. So far around 200 diagnoses ATS have been made world. Mutations KCNJ2 gene located arm chromosome 17, encoding Kir 2.1 protein, are responsible subtype 1, which accounts 60% cases. This protein component potassium ion channel, its abnormal structure function cause repolarization cells heart skeletal muscles. However, 6-20% patients from families confirmed presence mutations, no clinical symptoms were reported. It proves differentiated penetration, mechanism remaining remains unknown.Despite fact that very heterogeneous group terms observed symptoms, has classic triad:changes ECG trace T wave U (extended duration descending wave, characteristic wide combination waves these features distinguish other syndromes) form single multifocal premature beats, polymorphic, bidirectional tachycardia, may be asymptomatic or, more often, palpitations. Less common manifestations fainting, cardiac arrest sudden death[4].2. muscle strenght impairment (periodic paralysis) occurring most often prolonged period rest or during intense exercise, decrease concentration blood serum; some cases, there constant, albeit slight, weakening strength3. typical malformations (dysmorphia), including short stature, hypertelorism, small mandible, low-set auricles abnormalities curvature within spine.In unconfirmed mutation, diagnosis requires at least two above-mentioned symptoms. genetically their expression low[5]Due dysfunctions cognitive sphere, mainly field reading skills mathematical skills, should also covered psychological care, due behavioral changes, psychiatric.