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- W2065863421 abstract "A síndroma de QT longo congénita (SQTL) pode manifestar-se por síncopes ou convulsões recorrentes, no contexto de taquicardia ventricular polimórfica, podendo simular epilepsia. Nos doentes tratados com cardioversor-desfibrilhador implantável (CDI) a recorrência de arritmias com consequente terapêutica com choques frequentes pode conduzir a reacções adversas, nomeadamente psicogénicas. Apresentamos o caso de uma doente de 22 anos com síncopes e crises convulsivas, cujo diagnóstico era desde a infância de epilepsia, e em quem a SQTL foi diagnosticada apenas em idade adulta. Por falência da terapêutica beta-bloqueante implantou CDI, e por persistência de arritmias foi submetida a simpaticectomia cardíaca esquerda. O follow-up pós-cirurgia aos 3 meses mostrou redução significativa do número de arritmias. O estudo genético identificou uma mutação patogénica no gene KCNH2 (SQTL tipo 2), em heterozigotia, a mutação c.1817 C >T p.S606F, ainda não descrita na literatura. Relatamos também a rara ocorrência de tempestade arrítmica no contexto de infecção a H1N1. O caso clínico ilustra as dificuldades quer do diagnóstico quer do tratamento da SQTL. É discutida a possibilidade duma base genética partilhada entre a doença disrítmica e neurológica. Congenital long QT syndrome (LQTS) can present as syncope or seizures, secondary to polymorphic ventricular tachycardia, mimicking a primary seizure disorder. In patients treated with an implantable cardioverter-defibrillator (ICD), the recurrence of arrhythmias with subsequent frequent therapeutic shocks may cause adverse reactions, which can be psychogenic. We report the case of a 22-year-old woman with syncope and seizures who was diagnosed in childhood as epileptic and in whom LQTS was diagnosed only in adulthood. Beta-blocker therapy failed and an ICD was implanted. However, as arrhythmias persisted, left cardiac sympathetic denervation was performed. After surgery, three-month follow-up showed a significant reduction in arrhythmias. The genetic study identified a heterozygous mutation, c.1817 C>T p.S606F, on the KCNH2 gene that has not previously been reported in the literature. We also report the rare occurrence of an electrical storm in the course of H1N1 infection. This case illustrates the difficulties in the diagnosis and treatment of LQTS. The possibility of a common genetic basis for arrhythmic diseases and epilepsy is discussed." @default.
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- W2065863421 date "2011-12-01" @default.
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- W2065863421 title "Nova mutação na síndroma de QT Longo em doente com diagnóstico prévio de epilepsia" @default.
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- W2065863421 doi "https://doi.org/10.1016/j.repc.2011.10.003" @default.
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