2006年 · 第119卷第24期

Atrial fibrillation (AF) is frequently associated with rheumatic valvular heart disease (RVHD). AF leads to systemic thromboembolic complications,reduced quality of life (QOL), impaired ventricular function and also increased mortality. Multivariate analysis of results from a population-based study has shown that valvular heart disease is one of risk factors for development of AF.1 The frequency of RVHD has decreased in developed countries in recent years, but RVHD now constitutes a significant population for the cardiology services in developing countries.2

Abstract：Background Human amniotic epithelial cells (HAECs), which have several characteristics similar to stem cells,therefore could possibly be used in cell therapy without creating legal or ethical problems. In this study, we transplanted HEACs into the injured spinal cord of rats to investigate if the cells can improve the rats' hindlimb motor function.Methods HAECs were obtained from a piece of fresh amnion, labeled with Hoechst33342, and transplanted into the site of complete midthoracic spinal transections in adult rats. The rats (n=21) were randomly divided into three groups: Sham-operation group (n=7), cells-graft group (n=7), and PBS group (n=7). One rat of each group was killed for histological analysis at the second week after the transplantation. The other six rats of each group were killed for histological analysis after an 8-week behavioral testing. Hindlimb motor function was assessed by using the open-field BBB scoring system. Survival rate of the graft cells was observed at second and eighth weeks after the transplantation. We also detected the myelin sheath fibers around the lesions and the size of the axotomized red nucleus. A one-way ANOVA was used to compare the means among the groups. The significance level was set at P＜0.05.Results The graft HAECs survived for a long time (8 weeks) and integrated into the host spinal cord without immune rejection. Compared with the control group, HAECs can promote the regeneration and sprouting of the axons, improve the hindlimb motor function of the rats (BBB score: cells-graft group 9.0± 0.89 vs PBS group 3.7± 1.03, P＜0.01), and inhibit the atrophy of axotomized red nucleus [cells-graft group (526.47 ± 148.42) μm2 vs PBS group (473.69±164.73) μm2, P＜0.01].Conclusion Transplantation of HAECs can improve the hindlimb motor function of rats with spinal cord injury。

Abstract：Background The feasibility of the mapping of quantitative cerebral blood flow (CBF) named flow-sensitive alternating inversion recovery exempting separate T1 measurement (FAIREST) is still controversial. This study aimed to evaluate the reliability of FAIREST in the measurement of regional CBF (rCBF) in healthy volunteers.Methods Eighteen healthy volunteers underwent magnetic resonance (MR) scanning with the sequence of FAIREST. While they were at rest, rCBF values were obtained in various brain regions of interest (ROIs). The same scheme was repeated on every subject after two weeks. Statistical analysis was made to determine the effect of location, scan and side on the measurement of rCBF.Results The mean CBF values were (122 ± 28) ml · (100 g)-1 · min-1 and (43 ±10) ml · (100 g)-1 · min-1 in the gray and white matter respectively. There was significant main effect of location (t=-12.5, P＜0.01), but no significant effect of side. Paired t-test of ROIs in the same slice showed no significant difference in most sites between two scans, except in the gray matter of the bilateral frontal lobes (t=2.18-2.34, P ＜0.05). However, the rCBF values of the same structure obtained from different slices showed a significant difference (t=-3.49,P＜0.01).Conclusion FAIREST is a reliable technique in the measurement of rCBF, but different imaging slice may affect the agreement of rCBF across the scans。

Abstract：Background Vitamin D3 and its metabolites have been found to exert immunosuppressive effects both in vivo and in vitro. We investigated the synergistic effect of calcitriol and cyclosporine A (CsA) on lymphocyte proliferation in vitro and graft rejection following rat liver allotransplantations in vivo.Methods Alloantigen driven, human peripheral mononuclear cells' proliferation and cytokine production capacity were tested in the presence or absence of various concentrations of calcitriol or CsA. In vivo, liver allografts were transplanted in a high responder strain combination (SD to Wistar) rats and combination of subtherapeutical dose of CsA and calcitriol was administered in recipients, whereas the control recipients received single or no immunosuppressant. Proliferation of splenocyte from recipient was tested with mixed lymphocyte reaction. Serum interleukin-2 (IL-2) and interferon gamma (IFN-γ) concentrations were measured with enzyme linked immunosorbent assay.Results Combined medication of 10-9 mol/L calcitriol and 100 ng/ml CsA inhibited human peripheral mononuclear cells' proliferation to alloantigen and the production of IL-2 and IFN-γ but promoted that of IL-4and IL-10. Similarly, combination of 250 ng· kg-1 · d-1 calcitriol and 1.0 mg · kg-1 · d-1 CsA showed an additive effect in liver transplant model. It restrained splenocyte proliferation to alloantigen from donor and significantly reduced serum concentration of IL-2 and IFN-γ in recipients. Consequently, allograft rejection in combined medication group was minor (median William's grade was 1.0 vs 3.0 in combined medication group and in the control group, P＜0.05) and the recipients' survival was evidently prolonged [(93.7±5.8) days vs (12.6±1.4) days in combined medication group and in the control group, P＜0.01].Conclusion A combination of calcitriol and CsA has an additive effect on limiting lymphocyte proliferation and prolonging liver graft survival. With its additional immunomodulating property, calcitriol is a potent immunosuppressant that can extend the therapeutic window of classical immunomodulators in prevention and treatment of liver graft rejection。

Abstract：Background Benign prostate hyperplasia is one of the most common diseases affecting the health of the aging males. Watchful waiting is an acceptable management strategy for benign prostate hyperplasia in which the patient is monitored by the physician but receives no active intervention. The epidemiological data on this are lacking in China. Our study was designed to evaluate the changes of signs and symptoms of patients with benign prostate hyperplasia during management by watchful waiting in China.Methods One hundred and forty-five patients with benign prostate hyperplasia aged ＞ 50 years were enrolled in management by watchful waiting. All the patients were visited every 6 months and were given an International Prostate Symptom Score and Quality of Life questionnaire to complete. They also had uroflowmetry and were assessed using ultrasonography to get the volume of prostate, transition zone and amount of residual urine. The Student's t test, the Chi-square test, and variance analysis were used in the statistical analysis.Results All patients were visited after 6 months, the mean volume of transitional zone was found to haveincreased by 1.6 ml (P＜0.01), International Prostate Symptom Score was increased by 0.8 (P＜0.01) and Quality of Life was increased by 0.2 (P＜0.01), and there was no statistical change in other data. Among these patients,17.9% (26/145) visited again after 12 months when the data failed to show a statistically significant difference among the three groups (0, 6, and 12 months).Conclusions After one year's follow-up, the progression of benign prostate hyperplasia was slow and the clinical data did not undergo much change。

Abstract：Background The morphological and electrophysiological characteristics of cardiac cells in Koch triangle are still disputed. We studied the appearance and electrical properties of these diverse myocytes to elucidate their complex electrophysiological phenomena.Methods Experiments were conducted using cooled charge coupling device (CCD) system and whole cell,patch clamp technique to determine the morphology, action potential and sodium current density of single viable myocytes enzymatically isolated from the Koch triangle of rabbit hearts.Results Morphologically, cardiac cells in shape of spider, tiny spindle, slender spindle, rod and strip were observed in percentage of 3.0±0.3, 35.0±5.0, 15.0±2.0, 40.0±5.0 and 6.0±0.7 respectively. The cellular dimensions and capacitance gradually increased in the above order (all P＜0.05). Electrophysiologically, action potential configurations recorded from them were similar respectively to nodal (N), atrial nodal (AN), nodal Hisian (NH), atrial (A) and Hisian like potentials obtained from the intact atrioventricular nodal preparations.Diastolic depolarization appeared in all myocytes except for rod cells. Sodium current density increased in the order of tiny spindle, strip, rod, slender spindle cell (all P＜0.05), but could not be detected in spider-shaped cells.Linear regression analysis revealed that membrane capacitance was correlated negatively to the rate of diastolic depolarization r=-0.70, P＜0.001, but positively to maximum depolarization potential, amplitude of action potential, upstroke velocity and maximum peak value of sodium current density r=-0.84, 0.80, 0.87 and 0.75,respectively; all P＜0.001.Conclusions The results demonstrated that spider-shaped, spindle, rod and strip cells in Koch triangle might correspond to pacemaking, transitional, atrial and Purkinje like cells, respectively. Furthermore, tiny spindle and slender spindle cells were referred to transitional cell α (TCα) and β (TCβ) accordingly considering their distinctive electrical properties. Different myocytes with diverse electrical properties constituted the infrastructure of sophisticated electrophysiological phenomena in Koch triangle. In view of the prominent percentage and electrical properties, tiny spindle and slender spindle cells were presumed to play important roles。

Abstract：Background Dystonia is one of the most challenging movement disorders to treat. Medications and surgeries are the two methods to control dystonic symptoms. For patients with dystonia in whom symptoms are inadequately controlled with pharmacologic measures, the use of deep brain stimulation (DBS) can improve symptoms and enhance functional capacity. The best candidate for DBS is believed to be primary generalized dystonia, especially the DYT-1 type. Here, we report 9 cases of secondary dystonia to explore the feasibility,indications and complications of DBS in the treatment of secondary dystonia.Methods From July 2003 to June 2006, nine patients with secondary dystonia underwent surgery at Beijing Tiantan Hospital. Among them, 2 were diagnosed as having tardive dystonia, 1 had posttraumatic dystonia, 3 had a history of perinatal anoxia, 1 had neonatal pathologic jaundice, and 2 had no exact contributory history; MRI showed bilateral lentiform nuclei degeneration in one patient. Six patients underwent bilateral subthalamic nucleus (STN)-DBS, two underwent unilateral STN-DBS, the other underwent left STN and right globus pallidus intemus(GPi)-DBS.Results With intraoperative microelectrode recording, the targeted nucleus was accurately localized. Tentative stimulation could decrease muscle tension to the same extent, but twisting was not obviously improved.Follow-up for 3 months to 3 years showed satisfactory results in 3 patients with tardive dystonia and posttraumatic dystonia and that Burke-Fahn-Marsden Dystonia Scale (BFMS) decreased by more than 90%. The improvement of symptoms was progressive along with time. The other 6 patients had slight to moderate improvement. None of them had severe surgery-related complications. One had lead fracture 16 months after surgery and the lead was then evacuated.Conclusions DBS could be an ideal treatment for patients with tardive and posttraumatic dystonia. For patients with perinatal anoxia and diffuse impairment in the basal ganglia, DBS seemed not to be a good choice. STN could be an ideal target. Intraoperative microelectrode recording and mild amelioration of muscle tension are indicators of correct target location. No severe complications occurred。

Abstract：Background Syncope is common in children and adolescents, with 15% estimated to have had at least one syncopal episode by age 18. In recent years, an increasing number of children, especially girls at their school age,have developed unexplained syncope. The mechanism of an unexplained syncope exhibited by children is incompletely studied; the association between different hemodynamic patterns and clinical features is also not clear. The aim of the study was to investigate the hemodynamic patterns of children with unexplained syncope and to examine the clinical relevance.Methods Two hundred and eight children [87 boys, 121 girls, aged 3-19 years, mean (11.66±2.72) years]were selectively recruited from May 2000 to April 2006 when they presented syncope as their main complaint at the Multi-center Network for Childhood Syncope in Beijing, Hunan Province, Hubei Province, and Shanghai of China. All of the patients underwent head-up tilt tests; data were analyzed using SPSS version 10.0 for Windows.Continuous variables were expressed as the mean±standard deviation. Dichotomous variables were compared through a χ2 test. A value of P＜0.05 (two sided) was regarded as statistically significant.Results The age distribution of children with syncope was approximately normal. Head-up tilt tests was positive in 155 children, and the incidence of positive response of the baseline head-up tilt test for diagnosing unexplained syncope was 50.48%. The sensitivity value and diagnostic value of sublingual nitroglycerin head-up tilt test were both 74.52%. The hemodynamic pattern was normal in 53 children. The 155 children, who were positive in head-up tilt tests, showed signs of postural orthostatic tachycardia syndrome (60, 28.8%), the vasoinhibitory pattern (72, 34.6%), the cardioinhibitory pattern (5, 2.4%), and the mixed pattern (18, 8.7%). The gender distribution between the two age groups (age ＜ 12 years vs age ≥ 12 years) was not different (P＞0.05).The distribution of hemodynamic patterns between the children of the two age groups (age ＜ 12 years vs age ≥12 years), and the children with different complaints (dizziness vs syncope) was significantly different (P＜0.05),while the distribution between the children of different sexes and different lasting time of syncope (≤ 5 minutes vs ＞ 5 minutes) was not significantly different (P＞0.05). Different hemodynamic patterns were differentiated by differing syncope inducements,presymptoms, and complicated symptoms during and after syncope.Conclusion The tested girls were more prone when compared with the boys to have unexplained syncope, and the peak age was around twelve years old. The incidence of positive response of head-up tilt tests was also relatively higher for the girls. The distribution of hemodynamic patterns for different ages was different. For children with unexplained syncope,we should use head-up tilttests to distinguish the hemodynamic patterns in order to adopt rational therapeutic measures。

Abstract：Background Nifekalant may prevent atrial fibrillation (AF) and possibly be useful in treatment of atrial tachyarrhythmia in patients with severe heart failure. This study investigated the electophysiologic effect of nifekalant on the acute atrial remodeling in rapid atrial pacing (RAP) model of canine.Methods Twelve mongrel dogs subjected to rapid stimulation (400 beats/min) at left atrial appendage (LAA)for 24 hours, were randomized into the control group (rapid pacing only, n=6) and the nifekalant group (intravenous nifekalant therapy immediately after RAP, n=6). Atrial electrophysiological parameters were measured in right atrium, coronary sinus, LAA, posterior wall of left atrium (PWLA) and left superior pulmonary vein (LSPV), before and after the RAP.Results In the control group, the effective refractory periods (ERP) were shortened greatly at all sites, paced dogs had substantially shorter ERPs in the high right atrium, LAA, and LSPV, but fewer changes in the PWLA,the coefficient variation of ERP (COV ERP) was increased significantly. After rapid atrial stimulation, the inducibility of AF increased significantly [induction number: pre-RAP vs post-RAP, 1.00± 0.89 vs 8.17 ± 2.79,P＜0.01; duration of AF: pre-RAP vs post-RAP, (450.34± 362.59) ms vs (9975.77 ±4376.99) ms, P＜0.01]. In the nifekalant group, although the ERPs were prolonged at all sites compared with those in pre-RAP state, only the value at LSPV differed significantly from that in pre-RAP state [pre-RAP vs post-RAP, (102.50±5.24) ms vs (132.51 ±5.20) ms, P＜0.01]; the COV ERP did not change statistically in this group. The inducibility of AF slightly increased but insignificantly after pacing [induction number: pre-RAP vs post-RAP, 0.83 ±0.75 vs 1.67±0.82, P=0.19; duration of AF: pre-RAP vs post-RAP, (378.67±317.88) ms vs (1124.08±1109.77) ms,P=0.06]. Conduction time values did not alter significantly in either of the two groups after RAP.Conclusions In canine RAP model, nifekalant inhibited ERP shortening and ERP heterogeneity increasing,decreased AF induction. Nifekalant can reverse acute electrical remodeling effect in this model。

Abstract：Background Linear ablation of left atrium (LA) guided by three dimensional (3-D) electroanatomical mapping (Carto) has been used in many centres worldwide for the treatment of atrial fibrillation (AF) instead of pure anatomical approaches. There were little data about linear ablation of LA guided by Carto and double Lasso catheters in China. We report the results of linear ablation of LA guided by both Carto and double Lasso catheters.Methods After the anatomical model of LA and all pulmonary veins (PVs) had been established,circumferential ablations of the left pulmonary vein antrum and the right pulmonary vein antrum were performed with 2 circumferential mapping catheters (Lasso) placed within the ipsilateral superior and inferior PVs. The endpoint of ablation was abolishment or dissociation of the pulmonary vein potentials (PVPs). Oral amiodarone or propafenone was taken for at least 3 months by patients with persistent AF, permanent AF or those whose PVPs had not been isolated completely. The recurrence of atrial tachyarrhythmias was observed 3 months after the procedure.Results There were 106 patients (mean age, 51.4±9.9 years). Seventy-eight patients had paroxysmal AF, 12persistent AF and 16 permanent AF. Onset of atrial fibrillation occurred in 52 patients during ablation procedure.Thirty-two patients restored to sinus rhythm eventually after the procedure. Abolishment or dissociation of PVPs was accomplished during the procedure in 94 patients (88.7%). The duration of procedure and exposure to X-ray were (213±45) minutes and (32.5± 12.8) minutes, respectively. Among the 87 patients followed up for over 3 months, 62 were free of atrial tachyarrhythmias (including 8 patients who were still taking oral amiodarone).The success rate was 71.3% in the first procedure. Two patients had pericardial effusion treated by pericardial puncture and effusion drainage. No pulmonary vein stenosis, atrioesophageal fistula, stroke or procedural death occurred.Conclusions Combination of double Lasso catheters with 3-D electroanatomical mapping to guide the linear ablation of left atrium procedure can confirm the isolation of PVPs。

Abstract：Background Atrial tachycardia or flutter is common in patients after orthotopic heart transplantation.Radiofrequency catheter ablation to treat this arrhythmia has not been well defined in this setting. This study was conducted to assess the incidence of various symptomatic atrial arrhythmias and the efficacy and safety of radiofrequency catheter ablation in these patients.Methods Electrophysiological study and catheter ablation were performed in patients with symptomatic tachyarrhythmia. One Halo catheter with 20 poles was positioned around the tricuspid annulus of the donor right atrium, or positioned around the surgical anastomosis when it is necessary. Three quadripolar electrode catheters were inserted via the right or left femoral vein and positioned in the recipient atrium, the bundle of His position,the coronary sinus. Programmed atrial stimulation and burst pacing were performed to prove electrical conduction between the recipient and the donor atria and to induce atrial arrhythmias.Results Out of 55 consecutive heart transplantation patients, 6 males [(58 ± 12) years] developed symptomatic tachycardias at a mean of (5 ± 4) years after heart transplantation. Electrical propagation through the suture line between the recipient and the donor atrium was demonstrated during atrial flutter or during recipient atrium and donor atrium pacing in 2 patients. By mapping around the suture line, the earliest fragmented electrogram of donor atrium was assessed. This electrical connection was successfully ablated in the anterior lateral atrium in both patients. There was no electrical propagation through the suture line in the other 4 patients. Two had typical atrial flutter in the donor atrium which was successfully ablated by completing a linear ablation between the tricuspid annulus and the inferior vena cava. Two patients had atrial tachycardia which was ablated in the anterior septal and lateral donor atrium. There were no procedure-related complications. Patients were free of recurrent atrial tachyarrhythmias after a follow-up of (8 ± 7) months.Conclusions Four electrophysiological mechanisms have been found to contribute to the occurrence of symptomatic supraventricular arrhythmias following heart transplantation. Radiofrequency catheter ablation in patients with atrial flutter/tachycardia is feasible and safe after heart transplantation。

Abstract：Background Based on the hypothesis that pulmonary vein isolation could result in the damage of the epicardial fat pads, this study aimed to investigated the impact of right upper pulmonary vein (RUPV) isolation on vagal innervation to atria.Methods Bilateral cervical sympathovagal trunks were decentralized in 6 dogs. Metoprolol was given to block sympathetic effects. Multipolar catheters were placed into the right atrium (RA) and coronary sinus (CS). RUPV isolation was performed via transseptal procedure. Atrial effective refractory period (ERP), vulnerability window (VW) of atrial fibrillation (AF), and sinus rhythm cycle length (SCL) were measured at RA and distal coronary sinus (CSd) at baseline and vagal stimulation before and after RUPV isolation. Serial sections of underlying tissues before and after ablation were stained with haematoxylin and eosin.Results SCL decreased significantly during vagal stimulation before RUPV isolation (197 ± 21 vs 13 ±32 beats per minute, P＜0.001), but remained unchanged after RUPV isolation (162±29 vs 140±39 beats per minute,P＞0.05). ERP increased significantly before RUPV isolation compared with that during vagal stimulation [(85.00±24.29) ms vs (21.67±9.83) ms at RA, P＜0.001; (90.00± 15.49) ms vs (33.33±25.03) ms at CSd P＜0.005],but ERP at baseline hardly changed after RUPV isolation compared with that during vagal stimulation [(103.33 ±22.50) vs (95.00± 16.43) ms at RA, P = 0.09; (98.33±24.83) vs (75.00±29.50) ms at CSd, P=0.009]. The ERP shortening during vagal stimulation after RUPV isolation decreased significantly [(63.33 ± 22.51) ms vs (8.33 ±9.83) ms at RA, P＜0.005; (56.67±20.66) ms vs (23.33± 13.66) ms at CSd, P＜0.05]. AF was rarely induced at baseline before and after RUPV isolation (VW close to 0), while VW of AF to vagal stimulation significantly decreased after RUPV isolation [(40.00± 10.95) vs 0 ms at RA, P＜0.001; (45.00±32.09) vs (15.00±23.45) ms at CS, P ＜0.05]. The architecture of individual ganglia was significantly altered after ablation.Conclusions The less ERP shortening to vagal stimulation and altered architecture of individual ganglia after right upper pulmonary vein isolation indicate that isolation may result in damage of the epicardial fat pads,thereby attenuating the vagal innervation to atria. The decreased vulnerability window of atrial fibrillation indicates that vagal denervation may contribute to its suppression。

Acute coronary syndromes (ACS) consist of Aunstable angina pectoris, non-ST segment elevation myocardial infarction and ST segment elevation myocardial infarction. The pathogenic mechanism of ACS is most often based on thrombosis secondary to plaque rupture in atherosclerosis (AS). Recent studies indicate that immune and inflammatory responses are associated with the plaque instability in AS.1 Here we review molecular and cellular immunologic processes linked to initiation and progression of ACS and discuss potential applications of immunosuppressant therapy and the possible beneficial immune effects of some cardiovascular medicines used commonly in ACS。

Currently the main components of treatment for irritable bowel syndrome (IBS) include patient education and reassurance, dietary modification,symptomatic treatment, and psychological treatment,but little evidence exists that the current pharmaceutical agents routinely used in treating IBS patients are efficacious.1 Partly from lack of effective conventional therapeutics and in search of better treatment options, many patients with IBS in both the east and west have turned to complementary and alternative approaches, including traditional Chinese medicine (TCM).2,3

Patients with hypertension have the characteristics of abnormalities of vessel wall,blood constituents and blood flow. These abnormalities may confer a prothrombotic or hypercoagulable state and are related to the damage of target organs and long-term prognosis. Soluble thrombomodulin (sTM) as abnormalities of levels of specific plasma markers of endothelial damage or dysfunction may relate with the complications of hypertension and the determination of blood pressure itself. TM plays a critical role as a co-factor in the protein C pathway, 1 which is important in regulating coagulation as well as inflammation. Thus we hypothesized that the -33G＞A polymorphism alter thrombomodulin expression and/or impair anticoagulant function, which can predispose to the damage of the target organs during the progress of hypertension. Then, we investigated a possible association of sTM, TM on monocytes and the -33G＞A polymorphism with essential hypertension and cardiovascular disease (CVD) in the Chinese Han ethnic population。

The laparoscopic radical prostatectomy (LRP) is a developing technique for treatment of localized prostate cancer, while the extraperitoneal approach has been highlighted recently.1 From May 2003 to April 2006, we performed laparoscopic radical prostatectomy by transperitoneal or extraperitoneal approaches in 31 patients with localized prostate cancer. Some parameters of these patients are compared in this article。

Perimedullary arteriovenous fistula (PMAVF, type Ⅳ spinal cord arteriovenous malformation,SCAVM) is a direct arteriovenous shunt without abnormal vascular connection between the feeding artery and draining vein. Most patients with PMAVF present with a progressive myelopathy caused by venous hypertension, resulting in disabling deficits and incurable complete transverse myelopathy.1'2The lesion is usually located on the surface of the spinal cord or under the pia mater at the level of the conus medullaris or cauda equina, thoracic PMAVF is rarely encountered. Most PMAVFs are fed by the anterior spinal artery (ASA), posterior spinal artery (PSA), or both.1-5 Multiple arterial feeders from the ASA can make the treatment of the disease difficult.6From August 2004 to February 2005, we treated a patient with a recurrent PMAVF (type Ⅳb) at the thoracic level with multiple blood supply。

Congenital insensitivity to pain is a rare disorder,first described by Dearborn1 in 1932. Since the discovery of congenital insensitivity to pain with anhidrosis or hereditary sensory neuropathy type Ⅳin 1983,2 fewer than 60 cases have been reported.3Congenital insensitivity to pain with anhidrosis and progressing acro-osteolysis is a very rare disorder characterized by absence of painful perception after birth. Severe problems may arise if pain sensation is absent, causing injury to oral structures as teeth, lips and the tongue by self mutilation. The patient is at a risk of late presentation with systemic illnesses associated with pain, such as fracture and joint dislocation. Importantly, the patient may suffer from acro-osteolysis with growth, for instance, osteolysis of the distal extremities。

Sudden cardiac death (SCD) in children and adolescents is uncommon and yet it is devastating for both victim's family and the society.Recently, it was increasingly recognized that SCD in young patients with structurally normal heart may be caused by inheritable primary electrical diseases due to the malfunction of cardiac ion channels, a disease entity known as the ion channelopathies.Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a specific form of ion channelopathy which can cause cardiac syncope or SCD in young patients by producing catecholamine-induced bi-directional ventricular tachycardia (BiVT), polymorphic VT and ventricular fibrillation (VF) during physical exertion or emotion.1-7 We reported here an index case of CPVT caused by cardiac ryanodine receptor gene (hRyR2)mutation which presented as cardiac syncope and sudden cardiac arrest in a Chinese adolescent female。