Presentation and outcome of water-related events in children with long QT syndrome
| Autor: | Louise Albertella, Jackie Crawford, Jonathan R. Skinner |
|---|---|
| Rok vydání: | 2010 |
| Předmět: |
Male
Proband congenital hereditary and neonatal diseases and abnormalities Pediatrics medicine.medical_specialty Adolescent Genotype Heart disease Heart block Long QT syndrome Mutation Missense QT interval Syncope Electrocardiography Near Drowning medicine Humans cardiovascular diseases Child Swimming business.industry Prognosis medicine.disease Long QT Syndrome El Niño Seizure Disorders Child Preschool KCNQ1 Potassium Channel Pediatrics Perinatology and Child Health Female Presentation (obstetrics) business |
| Zdroj: | Archives of Disease in Childhood. 96:704-707 |
| ISSN: | 1468-2044 0003-9888 |
| Popis: | Long QT syndrome (LQTS) occurs in about 1 in 2500 of the general population.1 Of the 12 genotypes, LQTS type 1 is the most common type and is classically associated with exercise-related events, especially swimming,2 and the QT interval prolongs with Epinephrine infusion3 and after exercise.4 Mutations are in KCNQ1 and the cardiac potassium channel IKs is defective, such that the action potential is prolonged.5 6 Of the first 388 index cases with LQTS at the Mayo clinic, 28 (11%) had a history of swimming triggered events; 85% of these were due to LQTS type 1, 6% to LQTS type 2 and 3% were genotype negative.7 The relationship of drowning and near drowning to LQTS is well established. However, the nature and outcome of these events are not well described in children. It is essential to have a high index of suspicion when faced with these cases in order to make a prompt diagnosis and prevent unnecessary mortality and morbidity in these children, and take the opportunity to find and protect undiagnosed family members. We recently found that one third of a group of unrelated probands diagnosed with LQTS were initially misdiagnosed as having a seizure disorder, resulting in years of inappropriate treatments.8 During these years of delay (a mean of 9 years in those treated as epileptic), there were a number of sudden deaths in family members which might have been prevented. With this in mind we aimed to review the details of presentation and outcome, and time to final diagnosis, of children with LQTS who presented with a syncopal event related to water. Data were retrieved from LQTS probands (the first to be identified in a family) registered with the Cardiac Inherited Diseases Registry in New Zealand. This consent-based voluntary … |
| Databáze: | OpenAIRE |
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