Short-term response to phenytoin sodium in Andersen-Tawil syndrome-1 with a cardiac-dominant phenotype
| Autor: | Maneesh Rai, Syed Waleem Pasha, Gangham Sri Lakshmi Bhavani, Mukund A. Prabhu, Katta M. Girisha, Rohith Pai, Rakshith C. Kedambadi, Padmanabh Kamath, Alfred Joseph Augustine |
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| Rok vydání: | 2018 |
| Předmět: |
Adult
Male Phenytoin Time Factors Adolescent Familial periodic paralysis 030204 cardiovascular system & hematology Ventricular tachycardia Phenytoin Sodium Young Adult 03 medical and health sciences 0302 clinical medicine Andersen–Tawil syndrome medicine Humans 030212 general & internal medicine Andersen Syndrome Kcnj2 gene business.industry Arrhythmias Cardiac Periodic paralysis General Medicine medicine.disease Phenotype Pedigree Treatment Outcome Anesthesia Female Cardiology and Cardiovascular Medicine business Algorithms medicine.drug |
| Zdroj: | Pacing and Clinical Electrophysiology. 42:201-207 |
| ISSN: | 0147-8389 |
| Popis: | 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 ( |
| Databáze: | OpenAIRE |
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