Nuriye TARAKÇI, Murat KONAK, Hüseyin ALTUNHAN, Hayrullah ALP, Rahmi ÖRS

Hiperpreksi ile seyreden konjenital uzun QT sendromu

Konjenital uzun QT sendromu (KUQTS) EKG de QT intervalinde uzama ile karakterize genetik bir hastalıktır. Ventriküler taşiaritmilere bağlı ani kardiak ölüm riski bu hastalarda yüksektir. KUQTS"da fetus intrauterin atrioventriküler blok, sinüs bradikardisi ve taşiaritminin sonucu olarak bradikardi sergileyebilir. QT mesafesindeki uzama ile birlikte sensöronöral işitme kaybı, kas paralizisi, immun yetmezlik, sindaktili gibi multisistem tutulumları bildirilmektedir. Biz burada prenatal bradikardisi olan ve postnatal KUQTS tespit edilen prematüre bir hastamızı immun yetmezlik ve enfeksiyon kliniği olmaksızın hiperpreksia eşlik etmesi ve bu durumun literatürde ilk olması nedeni ile sunduk.

Anahtar Kelimeler:

Konjenital uzun QT sendromu, hiperprexia

Hyperpyrexia associated with congenital Long QT Syndrome

Congenital long QT syndrome (CLQTS) is a genetic disorder presented with prolonged QT interval. In these patients, risk of sudden cardiac death due to ventricular tachyarrhythmias is high. Bradycardia may exhibit as a result of intrauterine fetal atrioventricular block, sinus bradycardia, tachycardia in these patient. Prolonged QT interval and multisystem involvement such as sensorineural hearing loss, muscle paralysis, immune deficiency, syndactyly have been reported in these patient . We have detected hyperpyrexia without clinical immunodeficiency and infection in our patient. To our knowledge, our patient is the first case in the literature .

Keywords:

Congenital long QT syndrome, hyperpyrexia,

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