Document Detail

The Diagnostic and Therapeutic Aspects of Loss-of-Function Cardiac Sodium Channelopathies in Children.
MedLine Citation:
PMID:  22885917     Owner:  NLM     Status:  Publisher    
BACKGROUND AND OBJECTIVE: Loss-of-function sodium channelopathies manifest as a spectrum of diseases including Brugada Syndrome (BrS) and cardiac conduction disease. This study analyzes the diagnostic and therapeutic aspects of these disorders in children. METHODS: Patients aged ≤16 years with genetically-confirmed loss-of-function sodium channelopathies (SCN5A mutation), presenting with cardiac symptoms, positive family-history and/or abnormal ECG, were included. Abnormal ECG consisted of Type 1 BrS ECG and/or prolonged conduction intervals (PR interval/QRS duration >98(th) percentile for age). RESULTS: Among the cohort (n=33, age 6±5 years, 58% males, 30% probands), 14 (42%) patients were symptomatic, presenting with syncope (n=5), palpitations (n=1), supraventricular arrhythmias (n=3), aborted cardiac arrest (n=3), and sudden cardiac death (n=2). Heart-rate was 91±26 bpm, PR interval 168±35 ms, QRS duration 112±20 ms and QTc 409±26 ms. Conduction intervals were prolonged in 28 (85%) patients; six of these patients also had spontaneous Type 1 BrS ECG. Eight fever-associated events occurred in six patients, two of these were vaccination-related fever episodes. Treatment included aggressive antipyretics during fever in all patients; antiarrhythmic treatment included ICD (n=4), pacemaker (n=2), and beta-blockers, either alone (n=3) or in combination with device (n=2). During follow-up (4±4 years), two previously symptomatic patients had monomorphic VT; there were no deaths. CONCLUSIONS: Diagnosis of loss-of-function sodium channelopathies in children relies on cardiac symptoms, family-history and ECG. Fever and vaccination are potential arrhythmia-triggers; conduction delay is the commonest finding on ECG. Beta-blockers have a role in preventing tachycardia-induced arrhythmias; ICD should probably be reserved for severe cases.
Priya Chockalingam; Sally-Ann B Clur; Johannes M P J Breur; Thomas Kriebel; Thomas Paul; Lukas A Rammeloo; Arthur A M Wilde; Nico A Blom
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2012-8-7
Journal Detail:
Title:  Heart rhythm : the official journal of the Heart Rhythm Society     Volume:  -     ISSN:  1556-3871     ISO Abbreviation:  Heart Rhythm     Publication Date:  2012 Aug 
Date Detail:
Created Date:  2012-8-13     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  101200317     Medline TA:  Heart Rhythm     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Copyright Information:
Copyright © 2012. Published by Elsevier Inc.
Department of Pediatric Cardiology, Academic Medical Center, Amsterdam, The Netherlands; Heart Failure Research Centre, Department of Cardiology, Academic Medical Center, Amsterdam, The Netherlands.
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