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• W2013012258 abstract "Electrophysiologic studies were performed in two sibling with Jervell, Lange-Nielsen syndrome. Electrophysiologic parameters were all within normal limits except for prolongation of effective refractory period of the ventricular myocardium. This finding may suggest one of electrophysiologic mechanisms underlying QT prolongation, that is, delayed ventricular repolarization. Electrophysiologic studies were performed in two sibling with Jervell, Lange-Nielsen syndrome. Electrophysiologic parameters were all within normal limits except for prolongation of effective refractory period of the ventricular myocardium. This finding may suggest one of electrophysiologic mechanisms underlying QT prolongation, that is, delayed ventricular repolarization. Since Jervell and Lange-Nielsen1Jervell A Lange-Nielsen F Congenital deaf-mutism, functional heart disease with prolongation of Q-T interval and sudden death.Am Heart J. 1957; 54: 59-68Abstract Full Text PDF PubMed Scopus (1260) Google Scholar described the heritable syndrome of prolongation of QT intervals with deaf-mutism (surdocardiac syndrome2Jervell A Thingstad R Endsjö T The surdo-cardiac syndrome: three new cases of congenital deafness with syncopal attacks and Q-T prolongation in the electrocardiogram.Am Heart J. 1966; 72: 582-593Abstract Full Text PDF PubMed Scopus (53) Google Scholar), about 60 cases,8Schwartz PJ Malliani A Electrical alternation of the T-wave: clinical and experimental evidence of its relationship with the sympathetic nervous system and with the long Q-T syndrome.Am Heart J. 1975; 89: 45-50Abstract Full Text PDF PubMed Scopus (430) Google Scholar including seven in Japan,4Hashiba K Hereditary QT prolongation in Japan: genetic analysis and pathologic findings of the conducting system.Jnp Circ J. 1978; 42: 1133-1150Crossref PubMed Scopus (54) Google Scholar have been reported so far. In almost all patients, syncope and sudden death were attributable to ventricular fibrillation and asystole. However, as far as we know, electrophysiologic studies do not seem to have been performed on the Jervell, Lange-Nielsen syndrome patients. This paper reports the results of electrophysiologic studies in two siblings with the Jervell, Lange-Nielsen syndrome. The propositus was a ten-year-old boy. He was born at full term with normal delivery. His development was normal except for disturbance of speech of which his mother became aware when he was two years of age. At that time, he was said to be deaf-mute by an otologist. At four years of age, he suddenly fell at play, whereupon temporary syncopal attacks and clonic spasms of the legs were observed. At age of seven, while he was swimming in a pool, syncopal attacks with clonic spasms recurred. Five days later, and also at age of eight, similar attacks occurred while swimming, and he was taken to a university hospital. Since then, phenytoin was administered, although no abnormality was observed on his EEGs. He was admitted on June 19, 1979, to the Department of Pediatrics of Tokyo Medical and Dental University for close examinations. Figure 1 shows his ECG at rest in which sinus bradycardia (rates between 55 and 60 per minute) and prolonged QT interval (QTc: 0.7 sec) are shown. This six-year-old girl was delivered without complication. At four months of age, her mother suspected she might have hearing difficulty. After one year of age, she began to use a hearing aid, but remained mute. At six, she suddenly fell while at play with rapid recovery. She entered a common elementary school in April 1979. On May 23, she experienced a temporary syncopal attack during physical education. She was admitted to our university hospital on May 24. Figure 2 shows her ECG at rest. Heart rate is between 60 and 68 beats per minute. Configuration of T waves is similar to ones of her brother (case 1). The QTc interval is also prolonged to 0.79 seconds. There were not any patients with deaf-mutism except these siblings in their family. The method of our electrophysiologic studies has been described elsewhere.5Satake S Hiejima K Sakamoto Y et al.Demonstration of bidirectional dual A-V nodal pathways in the same patient.J Electrocardiol. 1977; 10: 71-76Abstract Full Text PDF PubMed Scopus (8) Google Scholar In brief, three electrode catheters were introduced percutaneously through both femoral veins using fluoroscopic techniques. A quadripolar catheter and two bipolar catheters (each with an interelectrode distance of 10 mm) were used for recording the high right atrial electrogram and stimulating its position, recording the His bundle electrogram, and stimulating the right ventricle, respectively. Extrastimulus during pacing was performed at both the high right atrium and the apex of the right ventricle by using a programmable digital pulse generator (Sanei-Sokki Type 3F-51). The rectangle stimulating pulses were delivered with 2 msec in duration and approximately twice diastolic threshold. Intracardiac electrograms and ECCs leads 2 and V1 were displayed on a multichannel oscilloscope and recorded on a four-channel tape system (TEAC R-351F). The records were subsequently reproduced on an eight-channel Siemens-Elema Mingograf 804 at speeds of 100 and 200 mm/sec. Electrophysiologic data for the two cases are shown in Table 1. The sinus cycle length was evidently prolonged in both cases, but the sinus recovery time was within normal limits. The parameters of electrophysiologic studies were within normal limits except for the effective refractory period (ERF) of the ventricular myocardium. Values of the ERP were 340 msec in case 1 and 370 msec in case 2, respectively. The ventriculoatrial conduction was intact in case 2 (Fig 3), but absent in case 1.Table 1Electrophysiologic Data of Two Patients*All values are in milliseconds. Abbreviations: CL indicates cycle length; SRT, sinus recovery time; PA, an approximation of intraatrial conduction time; AH, an approximation of A-V nodal conduction time; HV, His-Purkinje system conduction time; A, atrium; AVN, atrioventricular node; V, ventricular myocardium; FRP, functional refractory period; and ERP, effective refractory period.AVNCLSRTPAAHHVA, ERPFRPERPV, ERPCase 1 980-11001050150047240480290340Case 2 880-98010702012535220440340370* All values are in milliseconds. Abbreviations: CL indicates cycle length; SRT, sinus recovery time; PA, an approximation of intraatrial conduction time; AH, an approximation of A-V nodal conduction time; HV, His-Purkinje system conduction time; A, atrium; AVN, atrioventricular node; V, ventricular myocardium; FRP, functional refractory period; and ERP, effective refractory period. Open table in a new tab Ventricular tachycardia or fibrillation was never induced during these electrophysiologic studies. The two siblings described here are consistent with the Jervell, Lange-Nielsen syndrome because they were deaf-mute and showed characteristic Q-T prolongation associated with syncopal attacks. No other family member has been affected by the Jervell, Lange-Nielsen syndrome as far back as the two generations in the family. However, one might have been affected by the syndrome in generations before this because its inheritance is autosomal recessive.6Fraser GR Froggatt P James TN Congenital deafness associated with electrocardiographic abnormalities, fainting attacks and sudden death.Quart J Med. 1964; 33: 361-385PubMed Google Scholar The mechanism of Q-T prolongation in the Jervell, Lange-Nielsen syndrome involving Romano-Ward syndrome is still unknown, although there is increasing evidence that abnormality of the sympathetic nervous system is responsible for Q-T prolongation.3Schwartz PJ Periti M Milliani A The long Q-T syndrome.Am Heart J. 1975; 89: 378-390Abstract Full Text PDF PubMed Scopus (740) Google Scholar For example, Q-T prolongation was produced by either stimulating the left stellate ganglion or ablating the right one in dogs7Yanowitz F Preston JB Abildskov JA Functional distribution of right and left stellate innervation to the ventricles: production of neurogenic electrocardiographic changes by unilateral alteration of sympathetic tone.Circ Res. 1966; 18: 416-428Crossref PubMed Scopus (442) Google Scholar and cats.8Schwartz PJ Malliani A Electrical alternation of the T-wave: clinical and experimental evidence of its relationship with the sympathetic nervous system and with the long Q-T syndrome.Am Heart J. 1975; 89: 45-50Abstract Full Text PDF PubMed Scopus (430) Google Scholar These results have led to sympathetic ganglionectomy in patients with Q-T prolongation with success in preventing occurrence of ventricular fibrillation.8Schwartz PJ Malliani A Electrical alternation of the T-wave: clinical and experimental evidence of its relationship with the sympathetic nervous system and with the long Q-T syndrome.Am Heart J. 1975; 89: 45-50Abstract Full Text PDF PubMed Scopus (430) Google Scholar, 9Moss AJ McDonald J Unilateral cervicothoracic sympathetic ganglionectomy for the treatment of long Q-T interval syndrome.N Engl J Med. 1971; 285: 903-904Crossref PubMed Scopus (338) Google Scholar, 10Moss AJ Schwartz PJ Sudden death and the idiopathic long Q-T syndrome.Am J Med. 1979; 66: 6-7Abstract Full Text PDF PubMed Scopus (78) Google Scholar However, the ganglionectomy did not necessarily restore the Q-T interval to normal.10Moss AJ Schwartz PJ Sudden death and the idiopathic long Q-T syndrome.Am J Med. 1979; 66: 6-7Abstract Full Text PDF PubMed Scopus (78) Google Scholar Electrophysiologically, Q-T prolongation is thought to present delayed ventricular repolarization, with which prolongation of the refractory period is also concerned. The measured ERP of the ventricular myocardium in our cases was considerably prolonged as compared with that of Olsson et al11Olsson B Brorson L Harper R et al.Estimation of ventricular refractoriness in man by the extra stimulus method.Cardiovasc Res. 1977; 11: 31-38Crossref PubMed Scopus (23) Google Scholar and Guss et al.12Guss SB Kastor JA Josephson ME et al.Human ventricular refractoriness: effects of cycle length, pacing site and atropine.Circulation. 1976; 53: 450-455Crossref PubMed Scopus (78) Google Scholar The latter authors further demonstrated that the ERP was effected by basic cycle length (BCL) and pacing site. In our cases, basic ventricular pacing was conducted at a slightly faster rhythm than that of sinus, its rate having enhanced moderately in case 1 at the time of the electrophysiologic study. According to them, the magnitude of shortening of the ERP varied from 10 to 65 msec corresponding with that of the shortening of BCL. In addition, they suggested that the ERP was shorter when pacing was conducted at the right ventricular apex than at the right ventricular outflow tract. It does seem reasonable to judge, at all events, that the ERP of the ventricular myocardium in two children with the Jervell, Lange-Nielsen syndrome was truly prolonged, although the determination was carried out at the right ventricular apex, but not at different BCLs. This is the first report of electrophysiologic studies of the Jervell, Lange-Nielsen syndrome. It is said that the Q-T interval is an indirect but easily obtainable and clinically useful measurement of ventricular recovery properties, although the measurement has some limitations.13Abildskov JA Adrenergic effects on the QT interval of the electrocardiogram.Am Heart J. 1976; 92: 210-216Abstract Full Text PDF PubMed Scopus (169) Google Scholar In our cases, the measured ERP of the ventricular myocardium was much shorter than Q-T interval (QTc at the time of electrophysiologic study; 0.65 sec in case 1 and 0.71 sec in case 2). The exact cause of this discrepancy is not clear. These findings suggest that no such simple relationship exists between ventricular recovery properties and the T wave.13Abildskov JA Adrenergic effects on the QT interval of the electrocardiogram.Am Heart J. 1976; 92: 210-216Abstract Full Text PDF PubMed Scopus (169) Google Scholar On the other hand, pathologic studies on patients with the heritable prolongation of Q-T interval, although there were only a few reports,8Schwartz PJ Malliani A Electrical alternation of the T-wave: clinical and experimental evidence of its relationship with the sympathetic nervous system and with the long Q-T syndrome.Am Heart J. 1975; 89: 45-50Abstract Full Text PDF PubMed Scopus (430) Google Scholar, 4Hashiba K Hereditary QT prolongation in Japan: genetic analysis and pathologic findings of the conducting system.Jnp Circ J. 1978; 42: 1133-1150Crossref PubMed Scopus (54) Google Scholar, 6Fraser GR Froggatt P James TN Congenital deafness associated with electrocardiographic abnormalities, fainting attacks and sudden death.Quart J Med. 1964; 33: 361-385PubMed Google Scholar, 14Levine SA Woodworth CR Congenital deaf-mutism, prolonged Q-T interval, syncopal attacks and sudden death.N Engl J Med. 1958; 259: 412-417Crossref PubMed Scopus (69) Google Scholar, 15Phillips J Ichinose H Clinical and pathologic studies in the hereditary syndrome of a long QT interval, syncopal spells and sudden death.Chest. 1970; 58: 236-243Crossref PubMed Scopus (54) Google Scholar, 16Moothart RW Pryor R Hawley RL et al.The heritable syndrome of prolonged Q-T interval, syncope, and sudden death: electron microscopic observations.Chest. 1976; 70: 263-266Abstract Full Text Full Text PDF PubMed Scopus (13) Google Scholar revealed the Purkinje fibers to be spare and to lack the characteristic clear zone and bulge, and a marked enlargement of the subendocardial Purkinje cells and diffuse endocardial elastofibrosis of the ventricle. These findings suggest the possibility that pathologic abnormality of the ventricular myocardium may be responsible for electrophysiologic abnormality resulting in delayed ventricular repolarization. Accordingly, our study may suggest the electrophysiologic counterpart of the pathologic abnormality. In our cases, ECG was neither taken during the syncopal attacks nor was ventricular fibrillation induced during electrophysiologic studies. It does seem reasonable to assume, however, that ventricular fibrillation was responsible for the syncopal attacks in our cases, because it is common that ventricular tachyarrhythmia cannot be induced by electrophysiologic maneuver." @default.
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• W2013012258 title "Electrophysiologic Studies of Jervell, Lange-Nielsen Syndrome" @default.
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