Short‐term response to phenytoin sodium in Andersen‐Tawil syndrome‐1 with a cardiac‐dominant phenotype.
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 r...
| Publicado en: | Pacing & Clinical Electrophysiology Vol. 42; no. 2; pp. 201 - 208 |
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| Autores principales: | , , , , , , , , |
| Formato: | algorithm pictorial research tables/charts tracings Journal Article |
| Publicado: |
Wiley-Blackwell
Feb2019
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| Acceso en línea: | Ver este registro en EBSCOhost |
| fields | @attributes: recordID: 1 pdfLink: plink: https://search.ebscohost.com/login.aspx?direct=true&db=ccm&AN=134429707&site=ehost-live header: @attributes: shortDbName: ccm uiTerm: 134429707 longDbName: CINAHL Complete uiTag: AN controlInfo: bkinfo: dissinfo: jinfo: jid: 01478389 4F8 jtl: Pacing & Clinical Electrophysiology issn: 01478389 maglogo: Y pubinfo: dt: Feb2019 vid: 42 iid: 2 pid: 480 pub: Wiley-Blackwell place: Malden, Massachusetts artinfo: ui: 134429707 134429707 134429707 10.1111/pace.13569 134429707 ppf: 201 ppct: 7 formats: fmt: – @attributes: type: T – @attributes: type: P tig: atl: Short‐term response to phenytoin sodium in Andersen‐Tawil syndrome‐1 with a cardiac‐dominant phenotype. aug: au: Rai, Maneesh K. Pai, Rohith Prabhu, Mukund A. Pasha, Syed Waleem Kedambadi, Rakshith C. Kamath, Padmanabh Augustine, Alfred J. Bhavani, Gangham SriLakshmi Girisha, Katta M. affil: Department of Cardiology, Kasturba Medical College, Manipal Academy of Higher Education, Mangalore Karnataka, India sug: subj: Andersen-Tawil Syndrome Drug Therapy Phenotype Phenytoin Therapeutic Use Andersen-Tawil Syndrome Familial and Genetic Arrhythmia, Ventricular Human Treatment Outcomes Siblings Andersen-Tawil Syndrome Diagnosis Arrhythmia Genetic Screening Mutation Phenytoin Administration and Dosage Electrocardiography, Ambulatory Drug Tolerance ab: 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. pubtype: Academic Journal doctype: algorithm pictorial research tables/charts tracings Journal Article ougenre: Article language: English refInfo: holdings: @attributes: islocal: N |
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