CASE REPORT

med genet 2015; 1: 25-28
Received Date:
Accepted Date:
*

Department of Medical Genetics, Dicle University, School of Medicine, Diyarbakır, Turkey

**

Department of Medical Pharmacology, Dicle University, School of Medicine, Diyarbakır, Turkey

***

Department of Cardiology, Dicle University, School of Medicine, Diyarbakır, Turkey

****

Department of Medical Genetics, Istanbul University, School of Medicine, Istanbul, Turkey

A DUPLICATION MUTATION IN KCNQ1 GENE IN ROMANO-WARD SYNDROME

Abstract

Romano-Ward syndrome (RWS, Long QT syndrome 1) is a rare familial congenital cardiac disorder characterized by a prolonged QT interval on electrocardiograph. RWS may occur due to the mutations in KCNQ1 gene. Our case was a 27-year-old male patient with post-exercise syncope attacks and pre-syncope chest pain. QT interval was 660 ms on ECG. The KCNQ1 gene was sequenced and a heterozygous twelve base duplication was identified that causes a non-frameshift insertion of four new amino acids (QRQK) in the protein chain between amino acids 262-263. The patient was prescribed with metoprolol and cardioverter defibrillator was implanted. The patient was followed-up and he was discharged. Keywords: Long QT syndrome, KCNQ1, Romano-Ward syndrome

Özet

Romano-Ward sendromu (RWS, Uzun QT sendromu 1) EKG’de uzamış QT aralığı ile karakterize bir ailevi konjenital kalp hastalığıdır. RWS KCNQ1 genindeki mutasyonlarla oluşabilmektedir. 27 yaşındaki erkek hastamızda senkop öncesi göğüs ağrıları ve efor sonrası senkop atakları vardı. EKG’de 660 milisaniyeyi bulan QT intervalleri vardı. Sekans analizinde 262-263. aminoasitler arasına giren 4 (QRQK) aminoasit ile oluşan ve çerçeve kayması yapmayan 12 bazlık bir heterozigot mutasyon tespit edildi. Hastaya metoprolol reçete edildi ve cardioverter defibrilatör implante edildi. Takiplerin ardından hasta taburcu edildi.

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