ABSTRACT
El síndrome de QT largo es una anomalía del sistema eléctrico del corazón caracterizado por prolongación del intervalo QT en el electrocardiograma debido a la alteración en la función de los canales iónicos; ocasiona múltiples mutaciones en los canales de sodio y potasio. Por lo tanto, tiende a desarrollar fibrilación ventricular y Torsade de Pointes poniendo en riesgo la integridad y la vida. El objetivo de la presente revisión bibliográfica es describir el síndrome de QT largo de tipo congénito y subrayar la importancia de ejecutar un plan de cuidados, orientado a la persona en edad pediátrica, de manera que se eviten complicaciones y reincidencias hospitalarias para mejorar su calidad de vida. La valoración de los signos y síntomas por parte del personal de enfermería y todo el equipo de salud, así como la interpretación de los diversos métodos diagnósticos, son fundamentales para brindar una atención de calidad. Aun cuando las manifestaciones son inespecíficas, el diagnóstico eficaz de la enfermedad permite iniciar el manejo apropiado y disminuir la mortalidad infantil.
The long QT syndrome is an anomaly of the electrical system of the heart characterized by prolongation of the QT interval on the electrocardiogram due to an alteration in the function of sodium and potassium ion channels causing multiple mutations in these. Therefore, it tends to develop ventricular fibrillation and helical tachyarrhythmia (Torsades de Pointes), putting at risk the integrity and the life of the child. The objective of this review is to describe congenital long QT syndrome and underline the importance to develop a care plan aimed at the pediatric person in order to avoid complications and hospital recurrence in order to improve their quality of life. Evaluation of signs and symptoms by staff nurses and all health team, as well as the interpretation of the various diagnostic methods, are essential to provide quality care, timely and accurate. Even though the manifestations are no specific, the effective diagnosis of this disease allows starting a proper handling and reducing infant mortality
Subject(s)
Humans , Romano-Ward Syndrome/complications , Romano-Ward Syndrome/diagnosis , Romano-Ward Syndrome/nursing , Romano-Ward Syndrome/epidemiology , Romano-Ward Syndrome/pathology , Romano-Ward Syndrome/prevention & control , Pediatric Nursing/educationABSTRACT
Long QT syndrome (LQTS) is a genetically heterogeneous disorder associated with sequence variations in more than 10 genes; in some cases, it is caused by large deletions or duplications among the main, known LQTS-associated genes. Here, we describe a 14-month-old Korean boy with congenital hearing loss and prolonged QT interval whose condition was clinically diagnosed as Jervell and Lange-Nielsen syndrome (JLNS), a recessive form of LQTS. Genetic analyses using sequence analysis and multiplex ligation-dependent probe amplification (MLPA) assay revealed a large deletion spanning exons 7-10 as well as a frameshift mutation (c.1893dup; p.Arg632Glnfs*20). To our knowledge, this is the first report of a large deletion in KCNQ1 identified in JLNS patients. This case indicates that a method such as MLPA, which can identify large deletions or duplications needs to be considered in addition to sequence analysis to diagnose JLNS.
Subject(s)
Adolescent , Humans , Male , Alleles , Base Sequence , Electrocardiography , Exons , Frameshift Mutation , Heterozygote , Jervell-Lange Nielsen Syndrome/diagnosis , KCNQ1 Potassium Channel/genetics , Nucleic Acid Amplification Techniques , Pedigree , Sequence Analysis, DNA , Sequence DeletionABSTRACT
El síndrome de Jervell y Lange-Nielsen es una forma poco frecuente de síndrome de QT largo. Su herencia es autosómica recesiva y se manifiesta con sordera neurosensorial. Revisamos el caso de una niña de 7 años implantada coclear bilateral. Tras un episodio sincopal se realiza el diagnóstico de síndrome de QT largo, el estudio genético confirma el diagnóstico. Recomendamos realizar electrocardiograma a todos los niños con hipoacusia severa con el objeto de descartar este síndrome.
The Jervell and Lange-Nielsen (JLNS) is an uncommon form of long QT syndrome. His inheritance is autosomal recessive and manifests as a sensorineural deafness. We review the case of a 7 year old girl bilateral cochlear implanted. After a syncope episode, a long QT syndrome was confirmed by genetic study. We recommend electrocardiogram (ECG) to all children with severe hearing loss in order to rule out this syndrome.
Subject(s)
Humans , Female , Child , Jervell-Lange Nielsen Syndrome/diagnosis , Jervell-Lange Nielsen Syndrome/physiopathology , Hearing Loss/etiology , Long QT Syndrome/diagnosis , Long QT Syndrome/physiopathology , Jervell-Lange Nielsen Syndrome/complications , Electrocardiography , Hearing Loss/surgery , Hearing Loss/geneticsABSTRACT
Congenital long QT syndrome (LQTS) is an inherited disease characterized by prolonged QT intervals and polymorphic ventricular tachycardia. The clinical manifestations vary from sudden cardiac death by ventricular arrhythmia to asymptom throughout life. In 1957, Jervell and Lange-Nielsen reported a syndrome of congen-ital sensory deafness associated with a prolonged QT interval in four children. The affected children had multiple syncopal episodes, and three died suddenly. The mode of inheritance is autosomal recessive. Affected persons are susceptible to recurrent syncope, and they have a high incidence of sudden death and short life expectancy. We report a case and review the literature on long QT syndrome diagnosed in a 30-year-old female with a history of convulsion and loss of consciousness during delivery.