Background
Andersen‐Tawil syndrome (ATS) is a rare familial periodic paralysis that typically also affects the heart and skeletal system. Ventricular arrhythmias (VAs) are profound and difficult to control, but minimally symptomatic. In this report, we describe an atypical phenotype of ATS in two related families. We also report our experience with phenytoin sodium for the control of resistant VAs in these patients.
Methods and Results
Between 2014 and 2018, seven siblings were diagnosed with ATS on the basis of cardiac arrhythmias and genetic evaluation. Heterozygous mutation with c.431G > C (p.G144A) in exon 2 of KCNJ2 gene was observed in all patients. Characteristic cardiac manifestations were noted in all patients but periodic paralysis or objective neurological involvement was distinctly absent. Phenytoin was considered for control of symptomatic VA in three patients. Intake of oral phenytoin (5 mg/kg/day) for 1 month completely suppressed VA (<1% in 24‐h Holter monitoring) in two patients, and significantly in the third (8% per 24 h) patient. Phenytoin was well‐tolerated in all three patients.
Conclusions
We describe a cardiac‐predominant phenotype in ATS. ATS should be suspected in patients with typical cardiac manifestations even in the absence of periodic paralysis. Our initial experience with short‐term use of phenytoin for control of resistant VAs is encouraging.
To estimate the prevalence of blindness and its causes among those aged 50 years and above in rural Karnataka. A total of 1505 people aged 50 years and above from 15 villages were examined. The participants were selected through a house-to-house survey by the cluster sampling method. Visual acuity was tested using a modified Snellen's chart, and eyes were examined to ascertain the cause of blindness. The prevalence of blindness was 6.6% (95% confidence interval: 5.3-7.8%). Bilateral cataract was the principal cause of blindness among 78.7% of the blind and 12.1% were operated for cataract. In conclusion, the study area has a high burden of cataract blindness. Cataract surgical services should be made readily accessible and available to this rural population.
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