The clinical symptom complex characterized by syncopal attacks and sudden death in patients with electrocardiographic anomalies, especially a prolonged Q-T interval is known as the Romano-Ward syndrome. When a similar symptom complex is accompanied by congenital deafness, it is called Jervell and Lange-Nieisen syndrome. This study was undertaken to investigate the investigate the incidence of the latter syndrome in the Seoul area. A total of 1,013 children with congenital deafness who attend schools for the deaf were studied by analyzing their electrocardiograms. A corrected Q-T interval of> or =0.44 seconds was defined as a prolonged Q-T interval. The overall incidence of long Q-T syndrome observed in the deaf in the Seoul area was 0.49% as compared to 0.25% reported from elsewhere in the world. The mean age of patients with long Q-T syndrome was 11.3+/-5.9 years and the first syncopal attacks was 4.6+/-1.1 per patient. A valsalva maneuver and exercise tests in the test group were associated with significant changes in T wave configuration and prolonged Q-T intervals while similar changes were not observed in the control group. A larger survey is needed to derive more statistically significant conclusions.
Child* ; Deafness* ; Death, Sudden ; Electrocardiography ; Exercise Test ; Humans ; Incidence ; Romano-Ward Syndrome ; Seoul ; Valsalva Maneuver

Since Romano(1963) described Romano-Ward syndrome which is characterized by Q-T prolongation, abnormal T wave, ventricular tachcardia and syncopal attacks, about twenty cases have been reported in various countries of the world, but this case represents the first report of this syndrome in Korea. Authous experienced a case of Romano-Ward syndrome in a 23-year-old man who had been suffering from intermittent paroxysmal palpitation, chest discomfort and dyspnea for 11 years. On admission, he had tachycardia, gallop and engorgement of jugular veins. EKG showed ventricular tachycardia which promptly recurred after repeated attempts of cardioversion. Then, procainamide and digoxin were given. One day later, sinus bradycardia with Q-T prolongation with Deep T wave inversion occured. Therefore, propranol was prescribed under the impression of Romano-Ward syndrome. About 4 months later, EKG was normal except for mild Q-T prolongation and he was able to maintain normal life activity without difficulty.
Bradycardia ; Digoxin ; Dyspnea ; Electric Countershock ; Electrocardiography ; Humans ; Jugular Veins ; Korea ; Procainamide ; Romano-Ward Syndrome* ; Tachycardia ; Tachycardia, Ventricular ; Thorax ; Young Adult

Congenital long QT syndrome (LQTS) is a disease characterized by prolongation of ventricle repolarization and by the occurrence, usually during emotional or physical stress, of life-threatening arrhythmias that lead to sudden death in most symptomatic and untreated patients. Two variants have been initially identified:the original Jervell and Lange-Nielsen syndrome of congenital deafness and autosomal recessive inheritance, and the more frequent Romano-Ward syndrome of autosomal dominant inheritance. Evidence also shows that approximately 25 to 30% of the cases are sporadic with syncope and a prolonged QT interval but without showing evidence for familial involvement. Familial and sporadic cases have been grouped under the definition of congenital long QT syndrome. We experienced a case of congenital long QT syndrome in a 13-year-old female girl. She had episodes of recurrent syncope and QT interval prolongation(QTc=0.46sec) in electrocardiogram(ECG). The ECG of her mother showed QT interval prologation(QTc=0.46sec). After applying atenolol, the QT interval returned to normal range and syncope has not occurred. We report a case of congenital long QT syndrome with a brief review of related literatures.
Adolescent ; Arrhythmias, Cardiac ; Atenolol ; Deafness ; Death, Sudden ; Electrocardiography ; Female ; Humans ; Jervell-Lange Nielsen Syndrome ; Long QT Syndrome* ; Mothers ; Reference Values ; Romano-Ward Syndrome ; Syncope* ; Wills

OBJECTIVETo investigate the molecular pathology in families with long QT syndrome (LQTS) including Jervell-Longe-Nielsen syndrome (JLNS) and Romano-ward syndrome (RWS) and Brugada syndrome (BS) in Chinese population.

METHODSPolymerase chain reaction and DNA sequencing were used to screen for KCNQ1, KCNH2, KCNE1, and SCN5A mutation.

RESULTSWe identified a novel mutation N1774S in the SCN5A gene of the BS family, a novel mutation G314S in a RWS family which had also been found in Europe, North America, and Japan, and a single nucleotide polymorphisms (SNPs) G643S in the KCNQ1 of the JLNS family. In this JLNS family, another heterozygous novel mutation in exon 2a was found in KCNQ1 of the patients.

CONCLUSIONNew mutations were found in our experiment, which expand the spectrum of KCNQ1 and SCN5A mutations that cause LQTS and BS.

Adolescent ; Adult ; Base Sequence ; ERG1 Potassium Channel ; Ether-A-Go-Go Potassium Channels ; genetics ; Female ; Humans ; Jervell-Lange Nielsen Syndrome ; genetics ; KCNQ1 Potassium Channel ; genetics ; Long QT Syndrome ; congenital ; genetics ; Male ; Middle Aged ; Molecular Sequence Data ; Muscle Proteins ; genetics ; Mutation ; NAV1.5 Voltage-Gated Sodium Channel ; Pedigree ; Potassium Channels, Voltage-Gated ; genetics ; Romano-Ward Syndrome ; genetics ; Sodium Channels ; genetics